MLH1 c.539T>A ;(p.V180D)

Variant ID: 3-37050390-T-A

NM_000249.3(MLH1):c.539T>A;(p.V180D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

PCNA and Msh2-Msh6 activate an Mlh1-Pms1 endonuclease pathway required for Exo1-independent mismatch repair.

Molecular Cell
Goellner, Eva M EM; Smith, Catherine E CE; Campbell, Christopher S CS; Hombauer, Hans H; Desai, Arshad A; Putnam, Christopher D CD; Kolodner, Richard D RD
Publication Date: 2014-07-17

Variant appearance in text: MLH1: 539T>A; V180D
PubMed Link: 24981171
Variant Present in the following documents:
  • Main text
View BVdb publication page