Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Q419K
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MSH6

NM_000179.3:p.Q419K

Associated Papers

A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.

Szabo E et al.

Human Mutation, 2025

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MSH2

Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.

Zhang X et al.

Oncology Letters, 2018

Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.

Li D et al.

Plos One, 2013

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

Drotschmann K et al.

Current Biology : Cb, 1999

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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."