ORC4 c.233A>G ;(p.N78S)

Variant ID: 2-148716428-T-C

NM_181741.3(ORC4):c.233A>G;(p.N78S)

This variant was identified in 60 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ORC4: N78S
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: ORC4: 233A>G; N78S; rs2307394
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2307394
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22

Variant appearance in text: ORC4: N78S
PubMed Link: 36536675
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: ORC4: 233A>G; Asn78Ser
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: ORC4: 233A>G; Asn78Ser; rs2307394
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study.

Nutrients
Zhang, Xinruo X; Mass, Baba B BB; Talevi, Valentina V; Hou, Ruixue R; North, Kari E KE; Voruganti, Venkata Saroja VS
Publication Date: 2022-09-28

Variant appearance in text: rs2307394
PubMed Link: 36235682
Variant Present in the following documents:
  • Main text
  • nutrients-14-04030.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ORC4: 233A>G; N78S; rs2307394
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: ORC4: 233A>G; Asn78Ser; rs2307394
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Serum anti-inflammatory and inflammatory markers have no causal impact on telomere length: a Mendelian randomization study.

Archives Of Medical Science : Ams
Mazidi, Mohsen M; Shekoohi, Niloofar N; Katsiki, Niki N; Rakowski, Michal M; Mikhailidis, Dimitri P DP; Banach, Maciej M
Publication Date: 2021

Variant appearance in text: rs2307394
PubMed Link: 34025845
Variant Present in the following documents:
  • Main text
  • AMS-17-3-119965.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ORC4: Asn78Ser; rs2307394
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: ORC4: 233A>G; N78S; rs2307394
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Mendelian randomization study shows no causal effects of serum urate levels on the risk of MS.

Neurology(R) Neuroimmunology & Neuroinflammation
Harroud, Adil A; Richards, J Brent JB; Baranzini, Sergio E SE
Publication Date: 2021-01

Variant appearance in text: rs2307394
PubMed Link: 33214142
Variant Present in the following documents:
  • NEURIMMINFL2020030502.pdf
View BVdb publication page



Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Publication Date: 2020-11-25

Variant appearance in text: ORC4: N78S
PubMed Link: 33212010
Variant Present in the following documents:
  • NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5
View BVdb publication page



Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs2307394
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: ORC4: 233A>G; Asn78Ser; rs2307394
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2307394
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: ORC4: N78S
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Mendelian randomization study of serum uric acid levels and diabetes risk: evidence from the Dongfeng-Tongji cohort.

Bmj Open Diabetes Research & Care
Keerman, Mulatibieke M; Yang, Fen F; Hu, Hua H; Wang, Jing J; Wang, Fei F; Li, Zhaoyang Z; Yuan, Jing J; Yao, Ping P; Zhang, Xiaomin X; Guo, Huan H; Yang, Handong H; He, Meian M
Publication Date: 2020-02

Variant appearance in text: rs2307394
PubMed Link: 32111716
Variant Present in the following documents:
  • bmjdrc-2019-000834supp001.pdf
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: ORC4: N78S
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: ORC4: 233A>G; Asn78Ser
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 6
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: ORC4: 233A>G; Asn78Ser; rs2307394
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Nature Genetics
Tin, Adrienne A; Marten, Jonathan J; Halperin Kuhns, Victoria L VL; Li, Yong Y; Wuttke, Matthias M; Kirsten, Holger H; Sieber, Karsten B KB; Qiu, Chengxiang C; Gorski, Mathias M; Yu, Zhi Z; Giri, Ayush A; Sveinbjornsson, Gardar G; Li, Man M; Chu, Audrey Y AY; Hoppmann, Anselm A; O'Connor, Luke J LJ; Prins, Bram B; Nutile, Teresa T; Noce, Damia D; Akiyama, Masato M; Cocca, Massimiliano M; Ghasemi, Sahar S; van der Most, Peter J PJ; Horn, Katrin K; Xu, Yizhe Y; Fuchsberger, Christian C; Sedaghat, Sanaz S; Afaq, Saima S; Amin, Najaf N; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Bansal, Nisha N; Baptista, Daniela D; Bergmann, Sven S; Biggs, Mary L ML; Biino, Ginevra G; Boerwinkle, Eric E; Bottinger, Erwin P EP; Boutin, Thibaud S TS; Brumat, Marco M; Burkhardt, Ralph R; Campana, Eric E; Campbell, Archie A; Campbell, Harry H; Carroll, Robert J RJ; Catamo, Eulalia E; Chambers, John C JC; Ciullo, Marina M; Concas, Maria Pina MP; Coresh, Josef J; Corre, Tanguy T; Cusi, Daniele D; Felicita, Sala Cinzia SC; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Delgado, Graciela G; Demirkan, Ayşe A; Devuyst, Olivier O; Dittrich, Katalin K; Eckardt, Kai-Uwe KU; Ehret, Georg G; Endlich, Karlhans K; Evans, Michele K MK; Gansevoort, Ron T RT; Gasparini, Paolo P; Giedraitis, Vilmantas V; Gieger, Christian C; Girotto, Giorgia G; Gögele, Martin M; Gordon, Scott D SD; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; , ; Haller, Toomas T; Hamet, Pavel P; Harris, Tamara B TB; Hayward, Caroline C; Hicks, Andrew A AA; Hofer, Edith E; Holm, Hilma H; Huang, Wei W; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Lewis, Raychel M RM; Ingelsson, Erik E; Jakobsdottir, Johanna J; Jonsdottir, Ingileif I; Jonsson, Helgi H; Joshi, Peter K PK; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Kerr, Shona M SM; Kiess, Wieland W; Kleber, Marcus E ME; Koenig, Wolfgang W; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Krämer, Bernhard K BK; Kronenberg, Florian F; Kubo, Michiaki M; Kühnel, Brigitte B; La Bianca, Martina M; Lange, Leslie A LA; Lehne, Benjamin B; Lehtimäki, Terho T; , ; Liu, Jun J; Loeffler, Markus M; Loos, Ruth J F RJF; Lyytikäinen, Leo-Pekka LP; Magi, Reedik R; Mahajan, Anubha A; Martin, Nicholas G NG; März, Winfried W; Mascalzoni, Deborah D; Matsuda, Koichi K; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Milaneschi, Yuri Y; , ; O'Donnell, Christopher J CJ; Wilson, Otis D OD; Gaziano, J Michael JM; Mishra, Pashupati P PP; Mohlke, Karen L KL; Mononen, Nina N; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Müller-Nurasyid, Martina M; Nadkarni, Girish N GN; Nalls, Mike A MA; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Nolte, Ilja M IM; Noordam, Raymond R; O'Connell, Jeffrey R JR; Olafsson, Isleifur I; Padmanabhan, Sandosh S; Penninx, Brenda W J H BWJH; Perls, Thomas T; Peters, Annette A; Pirastu, Mario M; Pirastu, Nicola N; Pistis, Giorgio G; Polasek, Ozren O; Ponte, Belen B; Porteous, David J DJ; Poulain, Tanja T; Preuss, Michael H MH; Rabelink, Ton J TJ; Raffield, Laura M LM; Raitakari, Olli T OT; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Rizzi, Federica F; Robino, Antonietta A; Rudan, Igor I; Krajcoviechova, Alena A; Cifkova, Renata R; Rueedi, Rico R; Ruggiero, Daniela D; Ryan, Kathleen A KA; Saba, Yasaman Y; Salvi, Erika E; Schmidt, Helena H; Schmidt, Reinhold R; Shaffer, Christian M CM; Smith, Albert V AV; Smith, Blair H BH; Spracklen, Cassandra N CN; Strauch, Konstantin K; Stumvoll, Michael M; Sulem, Patrick P; Tajuddin, Salman M SM; Teren, Andrej A; Thiery, Joachim J; Thio, Chris H L CHL; Thorsteinsdottir, Unnur U; Toniolo, Daniela D; Tönjes, Anke A; Tremblay, Johanne J; Uitterlinden, André G AG; Vaccargiu, Simona S; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Völker, Uwe U; Vollenweider, Peter P; Waeber, Gerard G; Waldenberger, Melanie M; Whitfield, John B JB; Wild, Sarah H SH; Wilson, James F JF; Yang, Qiong Q; Zhang, Weihua W; Zonderman, Alan B AB; Bochud, Murielle M; Wilson, James G JG; Pendergrass, Sarah A SA; Ho, Kevin K; Parsa, Afshin A; Pramstaller, Peter P PP; Psaty, Bruce M BM; Böger, Carsten A CA; Snieder, Harold H; Butterworth, Adam S AS; Okada, Yukinori Y; Edwards, Todd L TL; Stefansson, Kari K; Susztak, Katalin K; Scholz, Markus M; Heid, Iris M IM; Hung, Adriana M AM; Teumer, Alexander A; Pattaro, Cristian C; Woodward, Owen M OM; Vitart, Veronique V; Köttgen, Anna A
Publication Date: 2019-10

Variant appearance in text: rs2307394
PubMed Link: 31578528
Variant Present in the following documents:
  • NIHMS1538428-supplement-2.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: ORC4: 233A>G; Asn78Ser
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2307394
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2307394
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Interactions between serum urate-associated genetic variants and sex on gout risk: analysis of the UK Biobank.

Arthritis Research & Therapy
Narang, Ravi K RK; Topless, Ruth R; Cadzow, Murray M; Gamble, Greg G; Stamp, Lisa K LK; Merriman, Tony R TR; Dalbeth, Nicola N
Publication Date: 2019-01-09

Variant appearance in text: rs2307394
PubMed Link: 30626429
Variant Present in the following documents:
  • Main text
  • 13075_2018_Article_1787.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ORC4: 233A>G; Asn78Ser; rs2307394
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease.

Annals Of Neurology
Kia, Demis A DA; Noyce, Alastair J AJ; White, Jon J; Speed, Doug D; Nicolas, Aude A; , ; Burgess, Stephen S; Lawlor, Debbie A DA; Davey Smith, George G; Singleton, Andrew A; Nalls, Mike A MA; Sofat, Reecha R; Wood, Nicholas W NW
Publication Date: 2018-08

Variant appearance in text: rs2307394
PubMed Link: 30014513
Variant Present in the following documents:
  • Main text
  • emss-82521.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: ORC4: 233A>G; N78S; rs2307394
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 3
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: ORC4: 233A>G; Asn78Ser; rs2307394
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank.

Annals Of The Rheumatic Diseases
Li, Xue X; Meng, Xiangrui X; Spiliopoulou, Athina A; Timofeeva, Maria M; Wei, Wei-Qi WQ; Gifford, Aliya A; Shen, Xia X; He, Yazhou Y; Varley, Tim T; McKeigue, Paul P; Tzoulaki, Ioanna I; Wright, Alan F AF; Joshi, Peter P; Denny, Joshua C JC; Campbell, Harry H; Theodoratou, Evropi E
Publication Date: 2018-07

Variant appearance in text: rs2307394
PubMed Link: 29437585
Variant Present in the following documents:
  • annrheumdis-2017-212534supp001.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2307394
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Scientific Reports
Li, Zhiqiang Z; Zhou, Zhaowei Z; Hou, Xu X; Lu, Dajiang D; Yuan, Xuan X; Lu, Jie J; Wang, Can C; Han, Lin L; Cui, Lingling L; Liu, Zhen Z; Chen, Jianhua J; Cheng, Xiaoyu X; Zhang, Keke K; Ji, Jue J; Jia, Zhaotong Z; Ma, Lidan L; Xin, Ying Y; Liu, Tian T; Yu, Qing Q; Ren, Wei W; Wang, Xuefeng X; Li, Xinde X; Mi, Qing-Sheng QS; Shi, Yongyong Y; Li, Changgui C
Publication Date: 2017-06-22

Variant appearance in text: rs2307394
PubMed Link: 28642574
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4127.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ORC4: 233A>G; Asn78Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Journal Of The American Society Of Nephrology : Jasn
Li, Man M; Li, Yong Y; Weeks, Olivia O; Mijatovic, Vladan V; Teumer, Alexander A; Huffman, Jennifer E JE; Tromp, Gerard G; Fuchsberger, Christian C; Gorski, Mathias M; Lyytikäinen, Leo-Pekka LP; Nutile, Teresa T; Sedaghat, Sanaz S; Sorice, Rossella R; Tin, Adrienne A; Yang, Qiong Q; Ahluwalia, Tarunveer S TS; Arking, Dan E DE; Bihlmeyer, Nathan A NA; Böger, Carsten A CA; Carroll, Robert J RJ; Chasman, Daniel I DI; Cornelis, Marilyn C MC; Dehghan, Abbas A; Faul, Jessica D JD; Feitosa, Mary F MF; Gambaro, Giovanni G; Gasparini, Paolo P; Giulianini, Franco F; Heid, Iris I; Huang, Jinyan J; Imboden, Medea M; Jackson, Anne U AU; Jeff, Janina J; Jhun, Min A MA; Katz, Ronit R; Kifley, Annette A; Kilpeläinen, Tuomas O TO; Kumar, Ashish A; Laakso, Markku M; Li-Gao, Ruifang R; Lohman, Kurt K; Lu, Yingchang Y; Mägi, Reedik R; Malerba, Giovanni G; Mihailov, Evelin E; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Robino, Antonietta A; Ruderfer, Douglas D; Salvi, Erika E; Schick, Ursula M UM; Schulz, Christina-Alexandra CA; Smith, Albert V AV; Smith, Jennifer A JA; Traglia, Michela M; Yerges-Armstrong, Laura M LM; Zhao, Wei W; Goodarzi, Mark O MO; Kraja, Aldi T AT; Liu, Chunyu C; Wessel, Jennifer J; , ; , ; Boerwinkle, Eric E; Borecki, Ingrid B IB; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Braga, Daniele D; Brandslund, Ivan I; Brody, Jennifer A JA; Campbell, Archie A; Carey, David J DJ; Christensen, Cramer C; Coresh, Josef J; Crook, Errol E; Curhan, Gary C GC; Cusi, Daniele D; de Boer, Ian H IH; de Vries, Aiko P J AP; Denny, Joshua C JC; Devuyst, Olivier O; Dreisbach, Albert W AW; Endlich, Karlhans K; Esko, Tõnu T; Franco, Oscar H OH; Fulop, Tibor T; Gerhard, Glenn S GS; Glümer, Charlotte C; Gottesman, Omri O; Grarup, Niels N; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hocking, Lynne L; Hofman, Albert A; Hu, Frank B FB; Husemoen, Lise Lotte N LL; Jackson, Rebecca D RD; Jørgensen, Torben T; Jørgensen, Marit E ME; Kähönen, Mika M; Kardia, Sharon L R SL; König, Wolfgang W; Kooperberg, Charles C; Kriebel, Jennifer J; Launer, Lenore J LJ; Lauritzen, Torsten T; Lehtimäki, Terho T; Levy, Daniel D; Linksted, Pamela P; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; Lupo, Antonio A; Meisinger, Christine C; Melander, Olle O; Metspalu, Andres A; Mitchell, Paul P; Nauck, Matthias M; Nürnberg, Peter P; Orho-Melander, Marju M; Parsa, Afshin A; Pedersen, Oluf O; Peters, Annette A; Peters, Ulrike U; Polasek, Ozren O; Porteous, David D; Probst-Hensch, Nicole M NM; Psaty, Bruce M BM; Qi, Lu L; Raitakari, Olli T OT; Reiner, Alex P AP; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Rossouw, Jacques E JE; Schmidt, Frank F; Siscovick, David D; Soranzo, Nicole N; Strauch, Konstantin K; Toniolo, Daniela D; Turner, Stephen T ST; Uitterlinden, André G AG; Ulivi, Sheila S; Velayutham, Dinesh D; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Wang, Jie Jin JJ; Weir, David R DR; Witte, Daniel D; Kuivaniemi, Helena H; Fox, Caroline S CS; Franceschini, Nora N; Goessling, Wolfram W; Köttgen, Anna A; Chu, Audrey Y AY
Publication Date: 2017-03

Variant appearance in text: ORC4: 233A>G; N78S; rs2307394
PubMed Link: 27920155
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 2
  • srep30457-s2.xls, sheet 1
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis.

The Lancet. Diabetes & Endocrinology
White, Jon J; Sofat, Reecha R; Hemani, Gibran G; Shah, Tina T; Engmann, Jorgen J; Dale, Caroline C; Shah, Sonia S; Kruger, Felix A FA; Giambartolomei, Claudia C; Swerdlow, Daniel I DI; Palmer, Tom T; McLachlan, Stela S; Langenberg, Claudia C; Zabaneh, Delilah D; Lovering, Ruth R; Cavadino, Alana A; Jefferis, Barbara B; Finan, Chris C; Wong, Andrew A; Amuzu, Antoinette A; Ong, Ken K; Gaunt, Tom R TR; Warren, Helen H; Davies, Teri-Louise TL; Drenos, Fotios F; Cooper, Jackie J; Ebrahim, Shah S; Lawlor, Debbie A DA; Talmud, Philippa J PJ; Humphries, Steve E SE; Power, Christine C; Hypponen, Elina E; Richards, Marcus M; Hardy, Rebecca R; Kuh, Diana D; Wareham, Nicholas N; Ben-Shlomo, Yoav Y; Day, Ian N IN; Whincup, Peter P; Morris, Richard R; Strachan, Mark W J MW; Price, Jacqueline J; Kumari, Meena M; Kivimaki, Mika M; Plagnol, Vincent V; Whittaker, John C JC; , ; Smith, George Davey GD; Dudbridge, Frank F; Casas, Juan P JP; Holmes, Michael V MV; Hingorani, Aroon D AD; ,
Publication Date: 2016-04

Variant appearance in text: rs2307394
PubMed Link: 26781229
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2307394
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Breast Cancer Research : Bcr
Lips, Esther H EH; Michaut, Magali M; Hoogstraat, Marlous M; Mulder, Lennart L; Besselink, Nicolle J M NJ; Koudijs, Marco J MJ; Cuppen, Edwin E; Voest, Emile E EE; Bernards, Rene R; Nederlof, Petra M PM; Wesseling, Jelle J; Rodenhuis, Sjoerd S; Wessels, Lodewyk F A LF; ,
Publication Date: 2015-10-03

Variant appearance in text: ORC4: N78S
PubMed Link: 26433948
Variant Present in the following documents:
  • 13058_2015_642_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ORC4: N78S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: ORC4L: N78S
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs2307394
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs2307394
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 4
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs2307394
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: ORC4: N78S; rs2307394
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2307394
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

Nature Genetics
Köttgen, Anna A; Albrecht, Eva E; Teumer, Alexander A; Vitart, Veronique V; Krumsiek, Jan J; Hundertmark, Claudia C; Pistis, Giorgio G; Ruggiero, Daniela D; O'Seaghdha, Conall M CM; Haller, Toomas T; Yang, Qiong Q; Tanaka, Toshiko T; Johnson, Andrew D AD; Kutalik, Zoltán Z; Smith, Albert V AV; Shi, Julia J; Struchalin, Maksim M; Middelberg, Rita P S RP; Brown, Morris J MJ; Gaffo, Angelo L AL; Pirastu, Nicola N; Li, Guo G; Hayward, Caroline C; Zemunik, Tatijana T; Huffman, Jennifer J; Yengo, Loic L; Zhao, Jing Hua JH; Demirkan, Ayse A; Feitosa, Mary F MF; Liu, Xuan X; Malerba, Giovanni G; Lopez, Lorna M LM; van der Harst, Pim P; Li, Xinzhong X; Kleber, Marcus E ME; Hicks, Andrew A AA; Nolte, Ilja M IM; Johansson, Asa A; Murgia, Federico F; Wild, Sarah H SH; Bakker, Stephan J L SJ; Peden, John F JF; Dehghan, Abbas A; Steri, Maristella M; Tenesa, Albert A; Lagou, Vasiliki V; Salo, Perttu P; Mangino, Massimo M; Rose, Lynda M LM; Lehtimäki, Terho T; Woodward, Owen M OM; Okada, Yukinori Y; Tin, Adrienne A; Müller, Christian C; Oldmeadow, Christopher C; Putku, Margus M; Czamara, Darina D; Kraft, Peter P; Frogheri, Laura L; Thun, Gian Andri GA; Grotevendt, Anne A; Gislason, Gauti Kjartan GK; Harris, Tamara B TB; Launer, Lenore J LJ; McArdle, Patrick P; Shuldiner, Alan R AR; Boerwinkle, Eric E; Coresh, Josef J; Schmidt, Helena H; Schallert, Michael M; Martin, Nicholas G NG; Montgomery, Grant W GW; Kubo, Michiaki M; Nakamura, Yusuke Y; Tanaka, Toshihiro T; Munroe, Patricia B PB; Samani, Nilesh J NJ; Jacobs, David R DR; Liu, Kiang K; D'Adamo, Pio P; Ulivi, Sheila S; Rotter, Jerome I JI; Psaty, Bruce M BM; Vollenweider, Peter P; Waeber, Gerard G; Campbell, Susan S; Devuyst, Olivier O; Navarro, Pau P; Kolcic, Ivana I; Hastie, Nicholas N; Balkau, Beverley B; Froguel, Philippe P; Esko, Tõnu T; Salumets, Andres A; Khaw, Kay Tee KT; Langenberg, Claudia C; Wareham, Nicholas J NJ; Isaacs, Aaron A; Kraja, Aldi A; Zhang, Qunyuan Q; Wild, Philipp S PS; Scott, Rodney J RJ; Holliday, Elizabeth G EG; Org, Elin E; Viigimaa, Margus M; Bandinelli, Stefania S; Metter, Jeffrey E JE; Lupo, Antonio A; Trabetti, Elisabetta E; Sorice, Rossella R; Döring, Angela A; Lattka, Eva E; Strauch, Konstantin K; Theis, Fabian F; Waldenberger, Melanie M; Wichmann, H-Erich HE; Davies, Gail G; Gow, Alan J AJ; Bruinenberg, Marcel M; , ; Stolk, Ronald P RP; Kooner, Jaspal S JS; Zhang, Weihua W; Winkelmann, Bernhard R BR; Boehm, Bernhard O BO; Lucae, Susanne S; Penninx, Brenda W BW; Smit, Johannes H JH; Curhan, Gary G; Mudgal, Poorva P; Plenge, Robert M RM; Portas, Laura L; Persico, Ivana I; Kirin, Mirna M; Wilson, James F JF; Mateo Leach, Irene I; van Gilst, Wiek H WH; Goel, Anuj A; Ongen, Halit H; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Imboden, Medea M; von Eckardstein, Arnold A; Cucca, Francesco F; Nagaraja, Ramaiah R; Piras, Maria Grazia MG; Nauck, Matthias M; Schurmann, Claudia C; Budde, Kathrin K; Ernst, Florian F; Farrington, Susan M SM; Theodoratou, Evropi E; Prokopenko, Inga I; Stumvoll, Michael M; Jula, Antti A; Perola, Markus M; Salomaa, Veikko V; Shin, So-Youn SY; Spector, Tim D TD; Sala, Cinzia C; Ridker, Paul M PM; Kähönen, Mika M; Viikari, Jorma J; Hengstenberg, Christian C; Nelson, Christopher P CP; , ; , ; , ; , ; Meschia, James F JF; Nalls, Michael A MA; Sharma, Pankaj P; Singleton, Andrew B AB; Kamatani, Naoyuki N; Zeller, Tanja T; Burnier, Michel M; Attia, John J; Laan, Maris M; Klopp, Norman N; Hillege, Hans L HL; Kloiber, Stefan S; Choi, Hyon H; Pirastu, Mario M; Tore, Silvia S; Probst-Hensch, Nicole M NM; Völzke, Henry H; Gudnason, Vilmundur V; Parsa, Afshin A; Schmidt, Reinhold R; Whitfield, John B JB; Fornage, Myriam M; Gasparini, Paolo P; Siscovick, David S DS; Polašek, Ozren O; Campbell, Harry H; Rudan, Igor I; Bouatia-Naji, Nabila N; Metspalu, Andres A; Loos, Ruth J F RJ; van Duijn, Cornelia M CM; Borecki, Ingrid B IB; Ferrucci, Luigi L; Gambaro, Giovanni G; Deary, Ian J IJ; Wolffenbuttel, Bruce H R BH; Chambers, John C JC; März, Winfried W; Pramstaller, Peter P PP; Snieder, Harold H; Gyllensten, Ulf U; Wright, Alan F AF; Navis, Gerjan G; Watkins, Hugh H; Witteman, Jacqueline C M JC; Sanna, Serena S; Schipf, Sabine S; Dunlop, Malcolm G MG; Tönjes, Anke A; Ripatti, Samuli S; Soranzo, Nicole N; Toniolo, Daniela D; Chasman, Daniel I DI; Raitakari, Olli O; Kao, W H Linda WH; Ciullo, Marina M; Fox, Caroline S CS; Caulfield, Mark M; Bochud, Murielle M; Gieger, Christian C
Publication Date: 2013-02

Variant appearance in text: rs2307394
PubMed Link: 23263486
Variant Present in the following documents:
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