ITIH1 c.1754A>T ;(p.E585V)

Variant ID: 3-52820981-A-T

NM_002215.3(ITIH1):c.1754A>T;(p.E585V)

This variant was identified in 37 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: ITIH1: E585V
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs678
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ITIH1: E585V
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
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: ITIH1: E585V
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Nature Communications
Skuladottir, Astros Th AT; Bjornsdottir, Gyda G; Ferkingstad, Egil E; Einarsson, Gudmundur G; Stefansdottir, Lilja L; Nawaz, Muhammad Sulaman MS; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Saevarsdottir, Saedis S; Walters, G Bragi GB; Magnusson, Sigurdur H SH; Bjornsdottir, Anna A; Sveinsson, Olafur A OA; Vikingsson, Arnor A; Hansen, Thomas Folkmann TF; Jacobsen, Rikke Louise RL; Erikstrup, Christian C; Schwinn, Michael M; Brunak, Søren S; Banasik, Karina K; Ostrowski, Sisse Rye SR; Troelsen, Anders A; Henkel, Cecilie C; Pedersen, Ole Birger OB; , ; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Thorgeirsson, Thorgeir E TE; Stefansson, Hreinn H; Stefansson, Kari K
Publication Date: 2022-03-24

Variant appearance in text: ITIH1: Glu585Val
PubMed Link: 35332129
Variant Present in the following documents:
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: ITIH1: E585V
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: ITIH1: E585V; rs678
PubMed Link: 34673281
Variant Present in the following documents:
  • 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: ITIH1: E585V; rs678
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Scalable analysis of multi-modal biomedical data.

Gigascience
Smith, Jaclyn J; Shi, Yao Y; Benedikt, Michael M; Nikolic, Milos M
Publication Date: 2021-09-11

Variant appearance in text: rs678
PubMed Link: 34508579
Variant Present in the following documents:
  • giab058_giga-d-20-00371_original_submission.pdf
  • giab058_giga-d-20-00371_revision_1.pdf
  • giab058_giga-d-20-00371_revision_2.pdf
  • giab058_giga-d-20-00371_revision_3.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: ITIH1: E585V; rs678
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetics of osteoarthritis.

Osteoarthritis And Cartilage
Aubourg, G G; Rice, S J SJ; Bruce-Wootton, P P; Loughlin, J J
Publication Date: 2022-05

Variant appearance in text: rs678
PubMed Link: 33722698
Variant Present in the following documents:
  • Main text
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: ITIH1: E585V; rs678
PubMed Link: 33623049
Variant Present in the following documents:
  • 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ITIH1: E585V; rs678
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.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: rs678
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
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: ITIH: 1754A>T; rs678
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
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: ITIH1: E585V
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia.

Translational Psychiatry
Niu, Hui-Min HM; Yang, Ping P; Chen, Huan-Huan HH; Hao, Ruo-Han RH; Dong, Shan-Shan SS; Yao, Shi S; Chen, Xiao-Feng XF; Yan, Han H; Zhang, Yu-Jie YJ; Chen, Yi-Xiao YX; Jiang, Feng F; Yang, Tie-Lin TL; Guo, Yan Y
Publication Date: 2019-01-31

Variant appearance in text: rs678
PubMed Link: 30705251
Variant Present in the following documents:
  • Main text
  • 41398_2019_Article_398.pdf
View BVdb publication page



Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.

Molecular Psychiatry
Amare, Azmeraw T AT; Vaez, Ahmad A; Hsu, Yi-Hsiang YH; Direk, Nese N; Kamali, Zoha Z; Howard, David M DM; McIntosh, Andrew M AM; Tiemeier, Henning H; Bültmann, Ute U; Snieder, Harold H; Hartman, Catharina A CA
Publication Date: 2020-07

Variant appearance in text: rs678
PubMed Link: 30626913
Variant Present in the following documents:
  • Main text
  • 41380_2018_Article_336.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: ITIH1: E585V; rs678
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: ITIH1: E585V; rs678
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: ITIH1: 1754A>T; Glu585Val; rs678
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A systematic review: Candidate gene and environment interaction on alcohol use and misuse among adolescents and young adults.

The American Journal On Addictions
Kim, Jueun J; Park, Aesoon A
Publication Date: 2018-07-10

Variant appearance in text: rs678
PubMed Link: 29992684
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04

Variant appearance in text: ITIH1: E585V; rs678
PubMed Link: 29567674
Variant Present in the following documents:
  • supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1
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: ITIH1: E585V; rs678
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs678
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry.

Human Genetics
Qian, Frank F; Feng, Ye Y; Zheng, Yonglan Y; Ogundiran, Temidayo O TO; Ojengbede, Oladosu O; Zheng, Wei W; Blot, William W; Ambrosone, Christine B CB; John, Esther M EM; Bernstein, Leslie L; Hu, Jennifer J JJ; Ziegler, Regina G RG; Nyante, Sarah S; Bandera, Elisa V EV; Ingles, Sue A SA; Press, Michael F MF; Nathanson, Katherine L KL; Hennis, Anselm A; Nemesure, Barbara B; Ambs, Stefan S; Kolonel, Laurence N LN; Olopade, Olufunmilayo I OI; Haiman, Christopher A CA; Huo, Dezheng D
Publication Date: 2016-10

Variant appearance in text: rs678
PubMed Link: 27380242
Variant Present in the following documents:
  • Main text
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: ITIH1: E585V
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
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: rs678
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: ITIH1: E585V; rs678
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



Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk.

Nature Genetics
Hu, Xinli X; Deutsch, Aaron J AJ; Lenz, Tobias L TL; Onengut-Gumuscu, Suna S; Han, Buhm B; Chen, Wei-Min WM; Howson, Joanna M M JM; Todd, John A JA; de Bakker, Paul I W PI; Rich, Stephen S SS; Raychaudhuri, Soumya S
Publication Date: 2015-08

Variant appearance in text: rs678
PubMed Link: 26168013
Variant Present in the following documents:
  • Main text
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: ITIH1: E585V; rs678
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



JEPEG: a summary statistics based tool for gene-level joint testing of functional variants.

Bioinformatics (Oxford, England)
Lee, Donghyung D; Williamson, Vernell S VS; Bigdeli, T Bernard TB; Riley, Brien P BP; Fanous, Ayman H AH; Vladimirov, Vladimir I VI; Bacanu, Silviu-Alin SA
Publication Date: 2015-04-15

Variant appearance in text: rs678
PubMed Link: 25505091
Variant Present in the following documents:
  • Main text
  • btu816.pdf
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: ITIH1: E585V; rs678
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.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: rs678
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



An integrated genetic linkage map for white clover (Trifolium repens L.) with alignment to Medicago.

Bmc Genomics
Griffiths, Andrew G AG; Barrett, Brent A BA; Simon, Deborah D; Khan, Anar K AK; Bickerstaff, Paul P; Anderson, Craig B CB; Franzmayr, Benjamin K BK; Hancock, Kerry R KR; Jones, Chris S CS
Publication Date: 2013-06-10

Variant appearance in text: rs678
PubMed Link: 23758831
Variant Present in the following documents:
  • 1471-2164-14-388.pdf
View BVdb publication page



Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Scott, Laura J LJ; Muglia, Pierandrea P; Kong, Xiangyang Q XQ; Guan, Weihua W; Flickinger, Matthew M; Upmanyu, Ruchi R; Tozzi, Federica F; Li, Jun Z JZ; Burmeister, Margit M; Absher, Devin D; Thompson, Robert C RC; Francks, Clyde C; Meng, Fan F; Antoniades, Athos A; Southwick, Audrey M AM; Schatzberg, Alan F AF; Bunney, William E WE; Barchas, Jack D JD; Jones, Edward G EG; Day, Richard R; Matthews, Keith K; McGuffin, Peter P; Strauss, John S JS; Kennedy, James L JL; Middleton, Lefkos L; Roses, Allen D AD; Watson, Stanley J SJ; Vincent, John B JB; Myers, Richard M RM; Farmer, Ann E AE; Akil, Huda H; Burns, Daniel K DK; Boehnke, Michael M
Publication Date: 2009-05-05

Variant appearance in text: ITIH1: Glu585Val; rs678
PubMed Link: 19416921
Variant Present in the following documents:
  • Main text
View BVdb publication page