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MLH1 c.97A>G ;(p.K33E)
Variant ID: 3-37035135-A-G
NM_000249.3(
MLH1
):c.97A>G;(p.K33E)
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:
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: MLH1: 97A>G; K33E
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
HDAC6 regulates DNA damage response via deacetylating MLH1.
The Journal Of Biological Chemistry
Zhang, Mu M; Hu, Chen C; Moses, Niko N; Haakenson, Joshua J; Xiang, Shengyan S; Quan, Daniel D; Fang, Bin B; Yang, Zhe Z; Bai, Wenlong W; Bepler, Gerold G; Li, Guo-Min GM; Zhang, Xiaohong Mary XM
Publication Date: 2019-04-12
Variant appearance in text: MLH1: K33E
PubMed Link:
30770470
Variant Present in the following documents:
Main text
View BVdb publication page