Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E518K
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PMS2

NM_000535.7:p.E518K

Associated Papers

Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.

Gheybi K et al.

Nature Communications, 2025

41038821 (PubMed )
Supplement: 41467_2025_63865_MOESM5_ESM.xlsx › Data7

Use of Olaparib in the Management of Metastatic Parathyroid Carcinoma With BRCA1 Mutation.

Woodfield D et al.

Jcem Case Reports, 2025

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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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."