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MSH6 c.2381C>T ;(p.A794V)
Variant ID: 2-48027503-C-T
NM_000179.2(
MSH6
):c.2381C>T;(p.A794V)
This variant was identified in 3 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: 2381C>T
PubMed Link:
35449176
Variant Present in the following documents:
41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.
Nature Communications
Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R
Publication Date: 2020-11-27
Variant appearance in text: MSH6: 2381C>T; A794V
PubMed Link:
33247113
Variant Present in the following documents:
41467_2020_19855_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21
Variant appearance in text: MSH6: A794V
PubMed Link:
29245953
Variant Present in the following documents:
oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page