MSH6 c.3218C>G ;(p.P1073R)

Variant ID: 2-48030604-C-G

NM_000179.2(MSH6):c.3218C>G;(p.P1073R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 3218C>G; Pro1073Arg; rs587779257
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: rs587779257
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.

Human Genomics
Yi, Dandan D; Xu, Lei L; Luo, Jiaqi J; You, Xiaobin X; Huang, Tao T; Zi, Yi Y; Li, Xiaoting X; Wang, Ru R; Zhong, Zaixuan Z; Tang, Xiaoqiao X; Li, Ang A; Shi, Yujian Y; Rao, Jianmei J; Zhang, Yifen Y; Sang, Jianfeng J
Publication Date: 2019-01-10

Variant appearance in text: MSH6: 3218C>G; Pro1073Arg
PubMed Link: 30630526
Variant Present in the following documents:
  • 40246_2018_186_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page