IL1RN (P18510) variants and mutations

IL1RN (also known as P18510) is a human protein-coding gene encoding an interleukin-1 receptor antagonist protein. It competitively blocks IL-1 receptor activation without triggering inflammatory signaling, providing an endogenous brake on IL-1-mediated inflammation. Biallelic loss-of-function variants cause deficiency of the IL-1 receptor antagonist, a severe neonatal autoinflammatory disease with skin and bone inflammation. This analysis covers 389 IL1RN variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes sterile multifocal osteomyelitis with periostitis and pustulosis, gout, and abdominal aortic aneurysm. Example IL1RN variants include M1?, E2K, and p.Glu9del.

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, MaveDB, LitVar.

Notable IL1RN variants

Examples include M1?, E2K, p.Glu9del, E2E, E2V, E2Q, I3F, I3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.