Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q130fs
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MSH2

NM_000251.3:p.Q130fs

Associated Papers

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Guan Y et al.

Scientific Reports, 2025

41044115 (PubMed )
Supplement: 41598_2025_17881_MOESM1_ESM.pdf

Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.

Zheng Y et al.

International Journal of Cancer, 2025

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

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.

Yildiz S et al.

Frontiers in Oncology, 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

Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.

Vidal AF et al.

Bmc Cancer, 2021

Comprehensive Genetic Characterization of Human Thyroid Cancer Cell Lines: A Validated Panel for Preclinical Studies.

Landa I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.

Walsh MD et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2012

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 2005

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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."