ZNF646 c.980A>G ;(p.E327G)

Variant ID: 16-31088625-A-G

NM_014699.3(ZNF646):c.980A>G;(p.E327G)

This variant was identified in 45 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: ZNF646: E327G
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ZNF646: E327G
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: ZNF646: Glu327Gly
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 11
View BVdb publication page



A Comprehensive Machine Learning Framework for the Exact Prediction of the Age of Onset in Familial and Sporadic Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Vélez, Jorge I JI; Samper, Luiggi A LA; Arcos-Holzinger, Mauricio M; Espinosa, Lady G LG; Isaza-Ruget, Mario A MA; Lopera, Francisco F; Arcos-Burgos, Mauricio M
Publication Date: 2021-05-17

Variant appearance in text: rs749670
PubMed Link: 34067584
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00887.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: ZNF646: 980A>G; E327G; rs749670
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: ZNF646: Glu327Gly; rs749670
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: ZNF646: 980A>G; E327G; rs749670
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Allele-specific expression of Parkinson's disease susceptibility genes in human brain.

Scientific Reports
Langmyhr, Margrete M; Henriksen, Sandra Pilar SP; Cappelletti, Chiara C; van de Berg, Wilma D J WDJ; Pihlstrøm, Lasse L; Toft, Mathias M
Publication Date: 2021-01-12

Variant appearance in text: rs749670
PubMed Link: 33436766
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_79990.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: ZNF646: E327G; rs749670
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Genome-wide association studies and Mendelian randomization analyses for leisure sedentary behaviours.

Nature Communications
van de Vegte, Yordi J YJ; Said, M Abdullah MA; Rienstra, Michiel M; van der Harst, Pim P; Verweij, Niek N
Publication Date: 2020-04-21

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 32317632
Variant Present in the following documents:
  • 41467_2020_15553_MOESM6_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: rs749670
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_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: ZNF646: 980A>G; Glu327Gly
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 9
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: ZNF646: E327G; rs749670
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
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: rs749670
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: ZNF646: E327G; rs749670
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: ZNF646: E327G; rs749670
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: ZNF646: 980A>G; Glu327Gly; rs749670
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.xlsx, sheet 1
View BVdb publication page



Pharmacogenetic studies with oral anticoagulants. Genome-wide association studies in vitamin K antagonist and direct oral anticoagulants.

Oncotarget
Cullell, Natalia N; Carrera, Caty C; Muiño, Elena E; Torres, Nuria N; Krupinski, Jerzy J; Fernandez-Cadenas, Israel I
Publication Date: 2018-06-26

Variant appearance in text: rs749670
PubMed Link: 30018749
Variant Present in the following documents:
  • Main text
  • oncotarget-09-29238.pdf
View BVdb publication page



Computational analyses of obesity associated loci generated by genome-wide association studies.

Plos One
Cheng, Mengrong M; Mei, Bing B; Zhou, Qian Q; Zhang, Manling M; Huang, Han H; Han, Lanchun L; Huang, Qingyang Q
Publication Date: 2018

Variant appearance in text: rs749670
PubMed Link: 29966015
Variant Present in the following documents:
  • Main text
  • pone.0199987.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: ZNF646: E327G; rs749670
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of bronchopulmonary dysplasia: a potential role for variants near the CRP gene.

Scientific Reports
Mahlman, Mari M; Karjalainen, Minna K MK; Huusko, Johanna M JM; Andersson, Sture S; Kari, M Anneli MA; Tammela, Outi K T OKT; Sankilampi, Ulla U; Lehtonen, Liisa L; Marttila, Riitta H RH; Bassler, Dirk D; Poets, Christian F CF; Lacaze-Masmonteil, Thierry T; Danan, Claude C; Delacourt, Christophe C; Palotie, Aarno A; Muglia, Louis J LJ; Lavoie, Pascal M PM; Hadchouel, Alice A; Rämet, Mika M; Hallman, Mikko M
Publication Date: 2017-08-24

Variant appearance in text: rs749670
PubMed Link: 28839172
Variant Present in the following documents:
  • 41598_2017_8977_MOESM1_ESM.pdf
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: rs749670
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: ZNF646: E327G; rs749670
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans.

Journal Of Thrombosis And Haemostasis : Jth
Hernandez, W W; Gamazon, E R ER; Aquino-Michaels, K K; Smithberger, E E; O'Brien, T J TJ; Harralson, A F AF; Tuck, M M; Barbour, A A; Cavallari, L H LH; Perera, M A MA
Publication Date: 2017-04

Variant appearance in text: rs749670
PubMed Link: 28135054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic analyses inform on migration events during the peopling of Eurasia.

Nature
Pagani, Luca L; Lawson, Daniel John DJ; Jagoda, Evelyn E; Mörseburg, Alexander A; Eriksson, Anders A; Mitt, Mario M; Clemente, Florian F; Hudjashov, Georgi G; DeGiorgio, Michael M; Saag, Lauri L; Wall, Jeffrey D JD; Cardona, Alexia A; Mägi, Reedik R; Wilson Sayres, Melissa A MA; Kaewert, Sarah S; Inchley, Charlotte C; Scheib, Christiana L CL; Järve, Mari M; Karmin, Monika M; Jacobs, Guy S GS; Antao, Tiago T; Iliescu, Florin Mircea FM; Kushniarevich, Alena A; Ayub, Qasim Q; Tyler-Smith, Chris C; Xue, Yali Y; Yunusbayev, Bayazit B; Tambets, Kristiina K; Mallick, Chandana Basu CB; Saag, Lehti L; Pocheshkhova, Elvira E; Andriadze, George G; Muller, Craig C; Westaway, Michael C MC; Lambert, David M DM; Zoraqi, Grigor G; Turdikulova, Shahlo S; Dalimova, Dilbar D; Sabitov, Zhaxylyk Z; Sultana, Gazi Nurun Nahar GNN; Lachance, Joseph J; Tishkoff, Sarah S; Momynaliev, Kuvat K; Isakova, Jainagul J; Damba, Larisa D LD; Gubina, Marina M; Nymadawa, Pagbajabyn P; Evseeva, Irina I; Atramentova, Lubov L; Utevska, Olga O; Ricaut, François-Xavier FX; Brucato, Nicolas N; Sudoyo, Herawati H; Letellier, Thierry T; Cox, Murray P MP; Barashkov, Nikolay A NA; Skaro, Vedrana V; Mulahasanovic, Lejla L; Primorac, Dragan D; Sahakyan, Hovhannes H; Mormina, Maru M; Eichstaedt, Christina A CA; Lichman, Daria V DV; Abdullah, Syafiq S; Chaubey, Gyaneshwer G; Wee, Joseph T S JTS; Mihailov, Evelin E; Karunas, Alexandra A; Litvinov, Sergei S; Khusainova, Rita R; Ekomasova, Natalya N; Akhmetova, Vita V; Khidiyatova, Irina I; Marjanović, Damir D; Yepiskoposyan, Levon L; Behar, Doron M DM; Balanovska, Elena E; Metspalu, Andres A; Derenko, Miroslava M; Malyarchuk, Boris B; Voevoda, Mikhail M; Fedorova, Sardana A SA; Osipova, Ludmila P LP; Lahr, Marta Mirazón MM; Gerbault, Pascale P; Leavesley, Matthew M; Migliano, Andrea Bamberg AB; Petraglia, Michael M; Balanovsky, Oleg O; Khusnutdinova, Elza K EK; Metspalu, Ene E; Thomas, Mark G MG; Manica, Andrea A; Nielsen, Rasmus R; Villems, Richard R; Willerslev, Eske E; Kivisild, Toomas T; Metspalu, Mait M
Publication Date: 2016-10-13

Variant appearance in text: rs749670
PubMed Link: 27654910
Variant Present in the following documents:
  • NIHMS69788-supplement-Supplementary_Information_SI1.pdf
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: ZNF646: E327G
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
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: rs749670
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genome-wide association study of warfarin maintenance dose in a Brazilian sample.

Pharmacogenomics
Parra, Esteban J EJ; Botton, Mariana R MR; Perini, Jamila A JA; Krithika, S S; Bourgeois, Stephane S; Johnson, Todd A TA; Tsunoda, Tatsuhiko T; Pirmohamed, Munir M; Wadelius, Mia M; Limdi, Nita A NA; Cavallari, Larisa H LH; Burmester, James K JK; Rettie, Allan E AE; Klein, Teri E TE; Johnson, Julie A JA; Hutz, Mara H MH; Suarez-Kurtz, Guilherme G
Publication Date: 2015

Variant appearance in text: rs749670
PubMed Link: 26265036
Variant Present in the following documents:
  • Main text
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: ZNF646: E327G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: ZNF646: E327G; rs749670
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Genetic studies of body mass index yield new insights for obesity biology.

Nature
Locke, Adam E AE; Kahali, Bratati B; Berndt, Sonja I SI; Justice, Anne E AE; Pers, Tune H TH; Day, Felix R FR; Powell, Corey C; Vedantam, Sailaja S; Buchkovich, Martin L ML; Yang, Jian J; Croteau-Chonka, Damien C DC; Esko, Tonu T; Fall, Tove T; Ferreira, Teresa T; Gustafsson, Stefan S; Kutalik, Zoltán Z; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Faul, Jessica D JD; Smith, Jennifer A JA; Zhao, Jing Hua JH; Zhao, Wei W; Chen, Jin J; Fehrmann, Rudolf R; Hedman, Åsa K ÅK; Karjalainen, Juha J; Schmidt, Ellen M EM; Absher, Devin D; Amin, Najaf N; Anderson, Denise D; Beekman, Marian M; Bolton, Jennifer L JL; Bragg-Gresham, Jennifer L JL; Buyske, Steven S; Demirkan, Ayse A; Deng, Guohong G; Ehret, Georg B GB; Feenstra, Bjarke B; Feitosa, Mary F MF; Fischer, Krista K; Goel, Anuj A; Gong, Jian J; Jackson, Anne U AU; Kanoni, Stavroula S; Kleber, Marcus E ME; Kristiansson, Kati K; Lim, Unhee U; Lotay, Vaneet V; Mangino, Massimo M; Leach, Irene Mateo IM; Medina-Gomez, Carolina C; Medland, Sarah E SE; Nalls, Michael A MA; Palmer, Cameron D CD; Pasko, Dorota D; Pechlivanis, Sonali S; Peters, Marjolein J MJ; Prokopenko, Inga I; Shungin, Dmitry D; Stančáková, Alena A; Strawbridge, Rona J RJ; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; van der Laan, Sander W SW; van Setten, Jessica J; Van Vliet-Ostaptchouk, Jana V JV; Wang, Zhaoming Z; Yengo, Loïc L; Zhang, Weihua W; Isaacs, Aaron A; Albrecht, Eva E; Ärnlöv, Johan J; Arscott, Gillian M GM; Attwood, Antony P AP; Bandinelli, Stefania S; Barrett, Amy A; Bas, Isabelita N IN; Bellis, Claire C; Bennett, Amanda J AJ; Berne, Christian C; Blagieva, Roza R; Blüher, Matthias M; Böhringer, Stefan S; Bonnycastle, Lori L LL; Böttcher, Yvonne Y; Boyd, Heather A HA; Bruinenberg, Marcel M; Caspersen, Ida H IH; Chen, Yii-Der Ida YI; Clarke, Robert R; Daw, E Warwick EW; de Craen, Anton J M AJM; Delgado, Graciela G; Dimitriou, Maria M; Doney, Alex S F ASF; Eklund, Niina N; Estrada, Karol K; Eury, Elodie E; Folkersen, Lasse L; Fraser, Ross M RM; Garcia, Melissa E ME; Geller, Frank F; Giedraitis, Vilmantas V; Gigante, Bruna B; Go, Alan S AS; Golay, Alain A; Goodall, Alison H AH; Gordon, Scott D SD; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grallert, Harald H; Grammer, Tanja B TB; Gräßler, Jürgen J; Grönberg, Henrik H; Groves, Christopher J CJ; Gusto, Gaëlle G; Haessler, Jeffrey J; Hall, Per P; Haller, Toomas T; Hallmans, Goran G; Hartman, Catharina A CA; Hassinen, Maija M; Hayward, Caroline C; Heard-Costa, Nancy L NL; Helmer, Quinta Q; Hengstenberg, Christian C; Holmen, Oddgeir O; Hottenga, Jouke-Jan JJ; James, Alan L AL; Jeff, Janina M JM; Johansson, Åsa Å; Jolley, Jennifer J; Juliusdottir, Thorhildur T; Kinnunen, Leena L; Koenig, Wolfgang W; Koskenvuo, Markku M; Kratzer, Wolfgang W; Laitinen, Jaana J; Lamina, Claudia C; Leander, Karin K; Lee, Nanette R NR; Lichtner, Peter P; Lind, Lars L; Lindström, Jaana J; Lo, Ken Sin KS; Lobbens, Stéphane S; Lorbeer, Roberto R; Lu, Yingchang Y; Mach, François F; Magnusson, Patrik K E PKE; Mahajan, Anubha A; McArdle, Wendy L WL; McLachlan, Stela S; Menni, Cristina C; Merger, Sigrun S; Mihailov, Evelin E; Milani, Lili L; Moayyeri, Alireza A; Monda, Keri L KL; Morken, Mario A MA; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Musk, Arthur W AW; Nagaraja, Ramaiah R; Nöthen, Markus M MM; Nolte, Ilja M IM; Pilz, Stefan S; Rayner, Nigel W NW; Renstrom, Frida F; Rettig, Rainer R; Ried, Janina S JS; Ripke, Stephan S; Robertson, Neil R NR; Rose, Lynda M LM; Sanna, Serena S; Scharnagl, Hubert H; Scholtens, Salome S; Schumacher, Fredrick R FR; Scott, William R WR; Seufferlein, Thomas T; Shi, Jianxin J; Smith, Albert Vernon AV; Smolonska, Joanna J; Stanton, Alice V AV; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen K; Stringham, Heather M HM; Sundström, Johan J; Swertz, Morris A MA; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tan, Sian-Tsung ST; Tayo, Bamidele O BO; Thorand, Barbara B; Thorleifsson, Gudmar G; Tyrer, Jonathan P JP; Uh, Hae-Won HW; Vandenput, Liesbeth L; Verhulst, Frank C FC; Vermeulen, Sita H SH; Verweij, Niek N; Vonk, Judith M JM; Waite, Lindsay L LL; Warren, Helen R HR; Waterworth, Dawn D; Weedon, Michael N MN; Wilkens, Lynne R LR; Willenborg, Christina C; Wilsgaard, Tom T; Wojczynski, Mary K MK; Wong, Andrew A; Wright, Alan F AF; Zhang, Qunyuan Q; , ; Brennan, Eoin P EP; Choi, Murim M; Dastani, Zari Z; Drong, Alexander W AW; Eriksson, Per P; Franco-Cereceda, Anders A; Gådin, Jesper R JR; Gharavi, Ali G AG; Goddard, Michael E ME; Handsaker, Robert E RE; Huang, Jinyan J; Karpe, Fredrik F; Kathiresan, Sekar S; Keildson, Sarah S; Kiryluk, Krzysztof K; Kubo, Michiaki M; Lee, Jong-Young JY; Liang, Liming L; Lifton, Richard P RP; Ma, Baoshan B; McCarroll, Steven A SA; McKnight, Amy J AJ; Min, Josine L JL; Moffatt, Miriam F MF; Montgomery, Grant W GW; Murabito, Joanne M JM; Nicholson, George G; Nyholt, Dale R DR; Okada, Yukinori Y; Perry, John R B JRB; Dorajoo, Rajkumar R; Reinmaa, Eva E; Salem, Rany M RM; Sandholm, Niina N; Scott, Robert A RA; Stolk, Lisette L; Takahashi, Atsushi A; Tanaka, Toshihiro T; van 't Hooft, Ferdinand M FM; Vinkhuyzen, Anna A E AAE; Westra, Harm-Jan HJ; Zheng, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Heath, Andrew C AC; Arveiler, Dominique D; Bakker, Stephan J L SJL; Beilby, John J; Bergman, Richard N RN; Blangero, John J; Bovet, Pascal P; Campbell, Harry H; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chakravarti, Aravinda A; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Crawford, Dana C DC; Cupples, L Adrienne LA; Cusi, Daniele D; Danesh, John J; de Faire, Ulf U; den Ruijter, Hester M HM; Dominiczak, Anna F AF; Erbel, Raimund R; Erdmann, Jeanette J; Eriksson, Johan G JG; Farrall, Martin M; Felix, Stephan B SB; Ferrannini, Ele E; Ferrières, Jean J; Ford, Ian I; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Gansevoort, Ron T RT; Gejman, Pablo V PV; Gieger, Christian C; 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Bottinger, Erwin P EP; Bouchard, Claude C; Cauchi, Stéphane S; Chambers, John C JC; Chanock, Stephen J SJ; Cooper, Richard S RS; de Bakker, Paul I W PIW; Dedoussis, George G; Ferrucci, Luigi L; Franks, Paul W PW; Froguel, Philippe P; Groop, Leif C LC; Haiman, Christopher A CA; Hamsten, Anders A; Hui, Jennie J; Hunter, David J DJ; Hveem, Kristian K; Kaplan, Robert C RC; Kivimaki, Mika M; Kuh, Diana D; Laakso, Markku M; Liu, Yongmei Y; Martin, Nicholas G NG; März, Winfried W; Melbye, Mads M; Metspalu, Andres A; Moebus, Susanne S; Munroe, Patricia B PB; Njølstad, Inger I; Oostra, Ben A BA; Palmer, Colin N A CNA; Pedersen, Nancy L NL; Perola, Markus M; Pérusse, Louis L; Peters, Ulrike U; Power, Chris C; Quertermous, Thomas T; Rauramaa, Rainer R; Rivadeneira, Fernando F; Saaristo, Timo E TE; Saleheen, Danish D; Sattar, Naveed N; Schadt, Eric E EE; Schlessinger, David D; Slagboom, P Eline PE; Snieder, Harold H; Spector, Tim D TD; Thorsteinsdottir, Unnur U; Stumvoll, Michael M; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Walker, Mark M; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Weir, David R DR; Wichmann, H-Erich HE; Wilson, James F JF; Zanen, Pieter P; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Heid, Iris M IM; O'Connell, Jeffrey R JR; Strachan, David P DP; Stefansson, Kari K; van Duijn, Cornelia M CM; Abecasis, Gonçalo R GR; Franke, Lude L; Frayling, Timothy M TM; McCarthy, Mark I MI; Visscher, Peter M PM; Scherag, André A; Willer, Cristen J CJ; Boehnke, Michael M; Mohlke, Karen L KL; Lindgren, Cecilia M CM; Beckmann, Jacques S JS; Barroso, Inês I; North, Kari E KE; Ingelsson, Erik E; Hirschhorn, Joel N JN; Loos, Ruth J F RJF; Speliotes, Elizabeth K EK
Publication Date: 2015-02-12

Variant appearance in text: ZNF646: E327G; rs749670
PubMed Link: 25673413
Variant Present in the following documents:
  • Main text
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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: ZNF646: E327G; rs749670
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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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: ZNF646: E327G; rs749670
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
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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: ZNF646: E327G; rs749670
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
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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: rs749670
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.

Lancet (London, England)
Perera, Minoli A MA; Cavallari, Larisa H LH; Limdi, Nita A NA; Gamazon, Eric R ER; Konkashbaev, Anuar A; Daneshjou, Roxana R; Pluzhnikov, Anna A; Crawford, Dana C DC; Wang, Jelai J; Liu, Nianjun N; Tatonetti, Nicholas N; Bourgeois, Stephane S; Takahashi, Harumi H; Bradford, Yukiko Y; Burkley, Benjamin M BM; Desnick, Robert J RJ; Halperin, Jonathan L JL; Khalifa, Sherief I SI; Langaee, Taimour Y TY; Lubitz, Steven A SA; Nutescu, Edith A EA; Oetjens, Matthew M; Shahin, Mohamed H MH; Patel, Shitalben R SR; Sagreiya, Hersh H; Tector, Matthew M; Weck, Karen E KE; Rieder, Mark J MJ; Scott, Stuart A SA; Wu, Alan H B AH; Burmester, James K JK; Wadelius, Mia M; Deloukas, Panos P; Wagner, Michael J MJ; Mushiroda, Taisei T; Kubo, Michiaki M; Roden, Dan M DM; Cox, Nancy J NJ; Altman, Russ B RB; Klein, Teri E TE; Nakamura, Yusuke Y; Johnson, Julie A JA
Publication Date: 2013-08-31

Variant appearance in text: rs749670
PubMed Link: 23755828
Variant Present in the following documents:
  • mmc1.pdf
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Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.

Genetics
Xue, Yali Y; Zhang, Xuelong X; Huang, Ni N; Daly, Allan A; Gillson, Christopher J CJ; Macarthur, Daniel G DG; Yngvadottir, Bryndis B; Nica, Alexandra C AC; Woodwark, Cara C; Chen, Yuan Y; Conrad, Donald F DF; Ayub, Qasim Q; Mehdi, S Qasim SQ; Li, Pu P; Tyler-Smith, Chris C
Publication Date: 2009-11

Variant appearance in text: rs749670
PubMed Link: 19737746
Variant Present in the following documents:
  • Main text
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The role of geography in human adaptation.

Plos Genetics
Coop, Graham G; Pickrell, Joseph K JK; Novembre, John J; Kudaravalli, Sridhar S; Li, Jun J; Absher, Devin D; Myers, Richard M RM; Cavalli-Sforza, Luigi Luca LL; Feldman, Marcus W MW; Pritchard, Jonathan K JK
Publication Date: 2009-06

Variant appearance in text: rs749670
PubMed Link: 19503611
Variant Present in the following documents:
  • pgen.1000500.s001.pdf
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A haplotype map of the human genome.

Nature
,
Publication Date: 2005-10-27

Variant appearance in text: rs749670
PubMed Link: 16255080
Variant Present in the following documents:
  • Main text
View BVdb publication page