Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.F313delFs
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MSH2

NM_000251.3:p.F313delFs

Associated Papers

Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

Villy MC et al.

Journal of the National Cancer Institute, 2024

Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.

Cheng SM et al.

Journal of Biomedical Science, 2024

38350919 (PubMed )
Supplement: 12929_2024_1008_MOESM1_ESM.zip › 12929_2024_1008_MOESM1_ESM › Additional_file_1_Table_S2.xlsx › Table_S2

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

Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Li Y et al.

Cancer Biology & Medicine, 2022

35638907 (PubMed )
Supplement: cbm-19-1235-s001.pdf

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC
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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."