Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E422*
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MSH2

NM_000251.3:p.E422*

Associated Papers

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

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

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.

Kantelinen J et al.

Human Mutation, 2012

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.

Ollila S et al.

International Journal of Cancer, 2008

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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."