XRCC3 (DNA repair protein XRCC3) variants and mutations

XRCC3 (also known as DNA repair protein XRCC3) is a human protein-coding gene encoding a DNA repair protein. It supports RAD51-mediated homologous recombination and resolution of DNA-repair intermediates, helping maintain chromosome stability. Biallelic severe loss is rare, and proposed associations of common or heterozygous variants with cancer risk are generally modest or uncertain. This analysis covers 954 XRCC3 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes breast cancer, gout, and obesity disorder. Example XRCC3 variants include D2Y, L3W, and L5R.

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 XRCC3 variants

Examples include D2Y, L3W, L5R, D7N, L8M, N9H, N9K, P10T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.