ERCC5 (P28715) variants and mutations

ERCC5 (also known as P28715) is a human protein-coding gene encoding a DNA excision repair protein ERCC-5 protein. It makes one of the two strand incisions required to remove bulky DNA lesions during nucleotide-excision repair and also supports repair-associated transcriptional responses. Biallelic pathogenic variants can cause xeroderma pigmentosum group G, Cockayne syndrome, or combined phenotypes. This analysis covers 1,891 ERCC5 variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes xeroderma pigmentosum group G, xeroderma pigmentosum-Cockayne syndrome complex, and Xeroderma pigmentosum complementation group G. Example ERCC5 variants include G2E, G2R, and G2V.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ERCC5 variants

Examples include G2E, G2R, G2V, G2W, G2G, V3D, V3F, V3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.