MSH6 c.2028A>T ;(p.K676N)

Variant ID: 2-48027150-A-T

NM_000179.2(MSH6):c.2028A>T;(p.K676N)

This variant was identified in 2 publications

View GRCh38 version.




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: 2028A>T; K676N
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Cancer Biology & Medicine
Dong, Li L; Zhang, Hailian H; Zhang, Huan H; Ye, Yingnan Y; Cheng, Yanan Y; Li, Lijuan L; Wei, Lijuan L; Han, Lei L; Cao, Yandong Y; Li, Shixia S; Hao, Xishan X; Liu, Juntian J; Yu, Jinpu J
Publication Date: 2021-09-28

Variant appearance in text: MSH6: 2028A>T; Lys676Asn
PubMed Link: 34570441
Variant Present in the following documents:
  • cbm-19-850-s001.pdf
View BVdb publication page