Varaico: Literature-Extracted Genetic Variants

Gene:RAD51
Variant:p.R250Q
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RAD51

NM_002875.5:p.R250Q

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Congenital mirror movements are associated with defective polymerisation of RAD51.

Trouillard O et al.

Journal of Medical Genetics, 2023

Noncanonical Roles of RAD51.

Thomas M et al.

Cells, 2023

A novel role for the DNA repair gene Rad51 in Netrin-1 signalling.

Glendining KA et al.

Scientific Reports, 2017

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature.

Trouillard O et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2016

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

Franz EA et al.

Journal of the Neurological Sciences, 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."