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MSH6 c.512A>G ;(p.E171G)
Variant ID: 2-48023087-A-G
NM_000179.2(
MSH6
):c.512A>G;(p.E171G)
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: 512A>G; E171G; rs876661145
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: 512A>G; E171G
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas.
Scientific Reports
Chan, Sock Hoai SH; Lim, Weng Khong WK; Ishak, Nur Diana Binte NDB; Li, Shao-Tzu ST; Goh, Wei Lin WL; Tan, Gek San GS; Lim, Kiat Hon KH; Teo, Melissa M; Young, Cedric Ng Chuan CNC; Malik, Simeen S; Tan, Mann Hong MH; Teh, Jonathan Yi Hui JYH; Chin, Francis Kuok Choon FKC; Kesavan, Sittampalam S; Selvarajan, Sathiyamoorthy S; Tan, Patrick P; Teh, Bin Tean BT; Soo, Khee Chee KC; Farid, Mohamad M; Quek, Richard R; Ngeow, Joanne J
Publication Date: 2017-09-06
Variant appearance in text: MSH6: 512A>G
PubMed Link:
28878254
Variant Present in the following documents:
41598_2017_Article_10333.pdf
View BVdb publication page