ERCC4 (DNA repair endonuclease XPF) variants and mutations

ERCC4 (also known as DNA repair endonuclease XPF) is a human protein-coding gene encoding a DNA repair endonuclease XPF protein. Together with ERCC1, it makes structure-specific DNA incisions required for nucleotide-excision repair and interstrand-crosslink repair. Biallelic pathogenic variants can cause xeroderma pigmentosum, Fanconi anemia, or severe progeroid DNA-repair disease. This analysis covers 1,851 ERCC4 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes xeroderma pigmentosum group F, Fanconi anemia complementation group Q, and xeroderma pigmentosum. Example ERCC4 variants include M1?, M1R, and M1T.

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 ERCC4 variants

Examples include M1?, M1R, M1T, M1V, E2A, E2K, E2Q, E2*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.