ERCC2 (P18074) variants and mutations

ERCC2 (also known as P18074) is a human protein-coding gene encoding a general transcription and DNA repair factor IIH helicase subunit XPD protein. Its XPD helicase activity unwinds damaged DNA during nucleotide-excision repair and also supports transcription initiation within TFIIH. Biallelic pathogenic variants cause xeroderma pigmentosum, trichothiodystrophy, or combined DNA-repair syndromes depending on the functional defect. This analysis covers 1,693 ERCC2 variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes trichothiodystrophy 1, photosensitive, cerebrooculofacioskeletal syndrome 2, and Xeroderma pigmentosum complementation group D. Example ERCC2 variants include M1T, M1V, and K2N.

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 ERCC2 variants

Examples include M1T, M1V, K2N, N4K, V5L, D6G, D6N, G7W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.