RAD51 (Q06609) variants and mutations

RAD51 (also known as Q06609) is a human protein-coding gene encoding a DNA repair protein RAD51 homolog 1 protein. Its annotated function is homologous DNA recombinase that catalyzes strand exchange, a key step in DNA repair through homologous recombination (HR). It is annotated at the chromosome. This analysis covers 638 RAD51 variants and mutations. Of these, 61% have computational variant effect predictions. Disease context includes Fanconi anemia complementation group R, Fanconi anemia, and mirror movements 2. Example RAD51 variants include A2T, A2V, and M3I.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable RAD51 variants

Examples include A2T, A2V, M3I, M3T, M3V, M3S, p.Met3 Gln4insLeu, Q4*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.