Varaico: Literature-Extracted Genetic Variants

Gene:RAD51
Variant:p.A293T
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RAD51

NM_002875.5:p.A293T

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

RAD51-Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.

Altintas B et al.

Clinical Genetics, 2025

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

Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities.

Liu S et al.

The Journal of Biological Chemistry, 2023

RAD51 bypasses the CMG helicase to promote replication fork reversal.

Liu W et al.

Science (new York, N.y.), 2023

Noncanonical Roles of RAD51.

Thomas M et al.

Cells, 2023

A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.

Geilmann S et al.

Clinical Case Reports, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Proteolytic control of genome integrity at the replication fork.

Rageul J et al.

Dna Repair, 2019

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

A Japanese patient with RAD51-associated Fanconi anemia.

Takenaka S et al.

American Journal of Medical Genetics. Part A, 2019

Characterization of a potent dominant negative mutant variant of Rad51 in Ustilago maydis.

Sutherland JH et al.

Dna Repair, 2019

Variation in RAD51 details a hub of functions: opportunities to advance cancer diagnosis and therapy.

van der Zon NL et al.

F1000research, 2018

Network Analysis of RAD51 Proteins in Metazoa and the Evolutionary Relationships With Their Archaeal Homologs.

Jiang S et al.

Frontiers in Genetics, 2018

Homologous recombination defects and how they affect replication fork maintenance.

Son MY et al.

Aims Genetics, 2018

Defects in recombination activity caused by somatic and germline mutations in the multimerization/BRCA2 binding region of human RAD51 protein.

Silva MC et al.

Dna Repair, 2017

Fanconi-Anemia-Associated Mutations Destabilize RAD51 Filaments and Impair Replication Fork Protection.

Zadorozhny K et al.

Cell Reports, 2017

Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers.

Cheung RS et al.

International Journal of Hematology, 2017

Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.

Mamrak NE et al.

Blood Reviews, 2017

High-resolution structure of the presynaptic RAD51 filament on single-stranded DNA by electron cryo-microscopy.

Short JM et al.

Nucleic Acids Research, 2016

Interplay between Fanconi anemia and homologous recombination pathways in genome integrity.

Michl J et al.

The Embo Journal, 2016

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

Ameziane N et al.

Nature Communications, 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."