Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q183*
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MSH2

NM_000251.3:p.Q183*

Associated Papers

DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers.

Walker R et al.

Gastroenterology, 2025

39788211 (PubMed )
Supplement: NIHMS2077496-supplement-1.xlsx › Supplementary_Table_2

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

39546165 (PubMed )
Supplement: 10689_2024_432_MOESM1_ESM.xlsx › Sheet1

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

Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Fountzilas E et al.

Oncotarget, 2018

30479693 (PubMed )
Supplement: oncotarget-09-35623-s001.pdf

MSH2 Loss in Primary Prostate Cancer.

Guedes LB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.

Fidalgo P et al.

European Journal of Human Genetics : Ejhg, 2000

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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."