MLH1 c.1918C>A ;(p.P640T)

Variant ID: 3-37090029-C-A

NM_000249.3(MLH1):c.1918C>A;(p.P640T)

This variant was identified in 4 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: rs63749792
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page


Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07

Variant appearance in text: MLH1: P640T
PubMed Link: 31697235
Variant Present in the following documents:
  • Main text
  • elife-49138.pdf
View BVdb publication page


Mutation spectrum in South American Lynch syndrome families.

Hereditary Cancer In Clinical Practice
Dominguez-Valentin, Mev M; Nilbert, Mef M; Wernhoff, Patrik P; López-Köstner, Francisco F; Vaccaro, Carlos C; Sarroca, Carlos C; Palmero, Edenir Ines EI; Giraldo, Alejandro A; Ashton-Prolla, Patricia P; Alvarez, Karin K; Ferro, Alejandra A; Neffa, Florencia F; Caris, Junea J; Carraro, Dirce M DM; Rossi, Benedito M BM
Publication Date: 2013-12-18

Variant appearance in text: MLH1: P640T
PubMed Link: 24344984
Variant Present in the following documents:
  • Main text
  • 1897-4287-11-18.pdf
View BVdb publication page


Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast.

G3 (Bethesda, Md.)
Lang, Gregory I GI; Parsons, Lance L; Gammie, Alison E AE
Publication Date: 2013-09-04

Variant appearance in text: MLH1: P640T
PubMed Link: 23821616
Variant Present in the following documents:
  • Main text
  • 1453.pdf
View BVdb publication page