MLH1 c.2173_2175delinsTGG ;(p.R725W)

Variant ID: 3-37092046-CGC-TGG

NM_000249.3(MLH1):c.2173_2175delinsTGG;(p.R725W)

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: HNPCC2: R725W
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility.

Endocrine
Mio, Catia C; Verrienti, Antonella A; Pecce, Valeria V; Sponziello, Marialuisa M; Damante, Giuseppe G
Publication Date: 2021-09

Variant appearance in text: MLH1: R725W
PubMed Link: 33821390
Variant Present in the following documents:
  • Main text
View BVdb publication page