HP c.434G>C ;(p.C145S)

Variant ID: 16-72093079-G-C

NM_005143.3(HP):c.434G>C;(p.C145S)

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: HP: 434G>C
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Crystal structure of the central coiled-coil domain from human liprin-β2.

Biochemistry
Stafford, Ryan L RL; Tang, Ming-Yun MY; Sawaya, Michael R MR; Phillips, Martin L ML; Bowie, James U JU
Publication Date: 2011-05-10

Variant appearance in text: HP: C145S
PubMed Link: 21462929
Variant Present in the following documents:
  • Main text
View BVdb publication page