Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.E191Splc
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RAD51C

NM_058216.3:p.E191Splc

Associated Papers

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Leman R et al.

Human Mutation, 2022

36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.

Sanoguera-Miralles L et al.

Cancers, 2022

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Sanoguera-Miralles L et al.

Cancers, 2020

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.

Yang X et al.

Journal of the National Cancer Institute, 2020

32107557 (PubMed )
Supplement: djaa030_supplementary_data.pdf

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Song H et al.

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

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