MLH1 c.2197C>T ;(p.H733Y)

Variant ID: 3-37092070-C-T

NM_000249.3(MLH1):c.2197C>T;(p.H733Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: MLH1: H733Y
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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: 2197C>T; His733Tyr
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Martinez, Sandra L SL; Kolodner, Richard D RD
Publication Date: 2010-03-16

Variant appearance in text: MLH1: H733Y
PubMed Link: 20176959
Variant Present in the following documents:
  • Main text
View BVdb publication page