WRN (Q14191) variants and mutations

WRN (also known as Q14191) is a human protein-coding gene encoding a bifunctional 3'-5' exonuclease/ATP-dependent helicase protein. It combines DNA helicase and exonuclease activities to maintain replication forks, telomeres, and genome stability. Biallelic loss-of-function variants cause Werner syndrome, an adult-onset progeroid disorder with premature aging, metabolic disease, atherosclerosis, and increased cancer risk. This analysis covers 2,849 WRN variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Werner syndrome, cancer, and melanoma. Example WRN variants include M1V, S2I, and S2R.

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 WRN variants

Examples include M1V, S2I, S2R, E3G, K4K, K5N, K5R, L6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.