Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q562P
Back to variants list

MLH1

NM_000249.4:p.Q562P

Associated Papers

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data

The ubiquitin ligase UBR4 and the deubiquitylase USP5 modulate the stability of DNA mismatch repair protein MLH1.

Mao C et al.

The Journal of Biological Chemistry, 2024

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Roht L et al.

Cancers, 2023

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.

Hardt K et al.

Familial Cancer, 2011

Cancer risk in 348 French MSH2 or MLH1 gene carriers.

Parc Y et al.

Journal of Medical Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."