MLH1 c.1327A>G ;(p.K443E)

Variant ID: 3-37067416-A-G

NM_000249.3(MLH1):c.1327A>G;(p.K443E)

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:

Distinct DNA-binding surfaces in the ATPase and linker domains of MutLĪ³ determine its substrate specificities and exert separable functions in meiotic recombination and mismatch repair.

Plos Genetics
Claeys Bouuaert, Corentin C; Keeney, Scott S
Publication Date: 2017-05

Variant appearance in text: MLH1: K443E
PubMed Link: 28505149
Variant Present in the following documents:
  • Main text
  • pgen.1006722.pdf
View BVdb publication page