IL18R1 (Interleukin-18 receptor 1) variants and mutations

IL18R1 (also known as Interleukin-18 receptor 1) is a human protein-coding gene encoding an interleukin-18 receptor 1 protein. It binds IL-18 and, together with IL18RAP, initiates signaling that promotes IFN-gamma production and cellular immune activation. Variation in this pathway can influence inflammatory and allergic disease susceptibility, although severe monogenic deficiency is uncommon. This analysis covers 913 IL18R1 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes Ascending aortic dissection, Wheezing, and Behcet disease. Example IL18R1 variants include M1?, N2D, and N2N.

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 IL18R1 variants

Examples include M1?, N2D, N2N, C3F, C3G, C3R, C3V, C3Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.