XRCC2 (DNA repair protein XRCC2) variants and mutations

XRCC2 (also known as DNA repair protein XRCC2) is a human protein-coding gene encoding a DNA repair protein. It acts with other RAD51 paralogs to assemble and stabilize homologous-recombination repair machinery at DNA double-strand breaks. Biallelic loss-of-function variants can cause Fanconi-anemia-like chromosome-instability disease, while heterozygous cancer-risk associations are less certain. This analysis covers 818 XRCC2 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes spermatogenic failure 50, Fanconi anemia, and hereditary neoplastic syndrome. Example XRCC2 variants include M1I, M1T, and C2F.

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, ClinGen, MaveDB, LitVar.

Notable XRCC2 variants

Examples include M1I, M1T, C2F, C2R, C2Y, p.Cys2 Ala4del, S3G, S3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.