Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Q522R
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MSH6

NM_000179.3:p.Q522R

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Terui H et al.

Journal of Biomedical Science, 2013

BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.

Domingo E et al.

Oncogene, 2005

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Berends MJ et al.

American Journal of Human Genetics, 2002

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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."