Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E562*
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MSH2

NM_000251.3:p.E562*

Associated Papers

Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.

Mizukami K et al.

Communications Medicine, 2025

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl

The contribution of Lynch syndrome to early onset malignancy in Ireland.

Talbot A et al.

Bmc Cancer, 2021

Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

Nowak JA et al.

The Journal of Molecular Diagnostics : Jmd, 2017

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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."