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HP c.431A>G ;(p.E144G)
Variant ID: 16-72093076-A-G
NM_005143.3(
HP
):c.431A>G;(p.E144G)
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: 431A>G
PubMed Link:
35449176
Variant Present in the following documents:
41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Polymorphisms in Protamine 1 and Protamine 2 predict the risk of male infertility: a meta-analysis.
Scientific Reports
Jiang, Weijun W; Sun, Hui H; Zhang, Jing J; Zhou, Qing Q; Wu, Qiuyue Q; Li, Tianfu T; Zhang, Cui C; Li, Weiwei W; Zhang, Mingchao M; Xia, Xinyi X
Publication Date: 2015-10-16
Variant appearance in text: HP: 431A>G
PubMed Link:
26472740
Variant Present in the following documents:
Main text
View BVdb publication page