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.




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