IL17RA (Interleukin-17 receptor A) variants and mutations

IL17RA (also known as Interleukin-17 receptor A) is a human protein-coding gene encoding an interleukin-17 receptor A protein. It is required for cellular responses to IL-17A and IL-17F, linking T-cell signals to epithelial antimicrobial defense. Biallelic loss-of-function variants can cause chronic mucocutaneous candidiasis through defective mucosal antifungal immunity. This analysis covers 1,432 IL17RA variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes immunodeficiency 51, psoriasis, and Chronic mucocutaneous candidosis. Example IL17RA variants include G2R, G2V, and G2W.

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 IL17RA variants

Examples include G2R, G2V, G2W, G2E, G2G, A3T, A3V, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.