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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.
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: 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