Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R621Q
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MSH2

NM_000251.3:p.R621Q

Associated Papers

Somatic Sequencing and Microsatellite Instability Results From Mismatch Repair-deficient Endometrial Carcinoma Patients Without Lynch Syndrome ("Lynch-like" tumors): Implications for Heritable Cancer Screening, Molecular Prognostication, and Immunotherapeutic Vulnerability.

Makia NL et al.

The American Journal of Surgical Pathology, 2023

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Multiplexing mutation rate assessment: determining pathogenicity of Msh2 variants in Saccharomyces cerevisiae.

Ollodart AR et al.

Genetics, 2021

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Hechtman JF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.

Shirts BH et al.

American Journal of Human Genetics, 2018

Mutational heterogeneity in non-serous ovarian cancers.

Teer JK et al.

Scientific Reports, 2017

28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_11

Cancer risk in 348 French MSH2 or MLH1 gene carriers.

Parc Y et al.

Journal of Medical Genetics, 2003

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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."