XPA (P23025) variants and mutations

XPA (also known as P23025) is a human protein-coding gene encoding a DNA repair protein complementing XP-A cells protein. It verifies bulky DNA lesions and organizes the nucleotide-excision-repair machinery around damaged sites. Biallelic loss-of-function variants cause xeroderma pigmentosum group A with extreme ultraviolet sensitivity, early skin cancers, and often progressive neurologic disease. This analysis covers 558 XPA variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes xeroderma pigmentosum, xeroderma pigmentosum group A, and Xeroderma pigmentosum complementation group A. Example XPA variants include M1T, A2V, and A3S.

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 XPA variants

Examples include M1T, A2V, A3S, A3V, A4V, D5A, D5E, D5N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.