Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.M1L
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RAD51D

NM_002878.4:p.M1L

Associated Papers

High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response.

Darrah KE et al.

Biorxiv : the Preprint Server for Biology, 2026

41542474 (PubMed )
Supplement: media-1.xlsx › Sup._Table_4_MAVE_Scores_-_All_

Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.

Arranz-Ledo M et al.

Genes, 2025

Multiple Myeloma Risk and Outcomes Are Associated with Pathogenic Germline Variants in DNA Repair Genes.

Thibaud S et al.

Blood Cancer Discovery, 2024

Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families.

Kwong A et al.

Journal of Personalized Medicine, 2024

39202057 (PubMed )
Supplement: jpm-14-00866-s001.zip › jpm-3121883-supplementary.pdf

Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.

Rein HL et al.

Dna Repair, 2024

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

Gutiérrez-Enríquez S et al.

International Journal of Cancer, 2014

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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."