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MSH6 c.727C>T ;(p.R243C)
Variant ID: 2-48025849-C-T
NM_000179.2(
MSH6
):c.727C>T;(p.R243C)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21
Variant appearance in text: MSH6: 727C>T; R243C; rs377216828
PubMed Link:
35449176
Variant Present in the following documents:
41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MSH6: 727C>T; Arg243Cys; rs377216828
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
TAPES: A tool for assessment and prioritisation in exome studies.
Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10
Variant appearance in text: MSH6: R243C; rs377216828
PubMed Link:
31613886
Variant Present in the following documents:
pcbi.1007453.s004.xlsx, sheet 6
pcbi.1007453.s004.xlsx, sheet 7
pcbi.1007453.s002.xlsx, sheet 1
pcbi.1007453.s004.xlsx, sheet 2
View BVdb publication page
Toward automation of germline variant curation in clinical cancer genetics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09
Variant appearance in text: MSH6: 727C>T; Arg243Cys
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page
Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.
Nature Communications
Bolli, Niccolo N; Avet-Loiseau, Hervé H; Wedge, David C DC; Van Loo, Peter P; Alexandrov, Ludmil B LB; Martincorena, Inigo I; Dawson, Kevin J KJ; Iorio, Francesco F; Nik-Zainal, Serena S; Bignell, Graham R GR; Hinton, Jonathan W JW; Li, Yilong Y; Tubio, Jose M C JM; McLaren, Stuart S; O' Meara, Sarah S; Butler, Adam P AP; Teague, Jon W JW; Mudie, Laura L; Anderson, Elizabeth E; Rashid, Naim N; Tai, Yu-Tzu YT; Shammas, Masood A MA; Sperling, Adam S AS; Fulciniti, Mariateresa M; Richardson, Paul G PG; Parmigiani, Giovanni G; Magrangeas, Florence F; Minvielle, Stephane S; Moreau, Philippe P; Attal, Michel M; Facon, Thierry T; Futreal, P Andrew PA; Anderson, Kenneth C KC; Campbell, Peter J PJ; Munshi, Nikhil C NC
Publication Date: 2014
Variant appearance in text: MSH6: 727C>T; R243C
PubMed Link:
24429703
Variant Present in the following documents:
ncomms3997-s2.xlsx, sheet 1
View BVdb publication page