Varaico: Literature-Extracted Genetic Variants

Gene:RAD51
Variant:p.R254*
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RAD51

NM_002875.5:p.R254*

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

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

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: Table1.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

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A

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

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.

Ameziane N et al.

Nature Communications, 2015

RAD51 haploinsufficiency causes congenital mirror movements in humans.

Depienne C et al.

American Journal of Human Genetics, 2012

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