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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.
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: 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