Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.V31V
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PMS2

NM_000535.7:p.V31V

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3B

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.

Climent-Cantó P et al.

Clinical Epigenetics, 2024

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

Caja F et al.

International Journal of Molecular Sciences, 2020

32756484 (PubMed )
Supplement: ijms-21-05561-s001.zip › SNP_2.0_final.xls › MLH1

Relevance of hMLH1 -93G>A, 655A>G and 1151T>A polymorphisms with colorectal cancer susceptibility: a meta-analysis based on 38 case-control studies.

Zare M et al.

Revista Da Associacao Medica Brasileira (1992), 2018

The dynamic DNA methylation landscape of the mutL homolog 1 shore is altered by MLH1-93G>A polymorphism in normal tissues and colorectal cancer.

Savio AJ et al.

Clinical Epigenetics, 2017

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.

Tomlinson IP et al.

Mutagenesis, 2012

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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."