IL10RA (Q13651) variants and mutations

IL10RA (also known as Q13651) is a human protein-coding gene encoding an interleukin-10 receptor subunit alpha protein. It is required for cells to respond to the anti-inflammatory cytokine IL-10 and activate downstream STAT3 signaling. Biallelic loss-of-function variants cause severe infantile or very-early-onset inflammatory bowel disease, often with perianal disease and systemic inflammation. This analysis covers 865 IL10RA variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes Autosomal recessive early-onset inflammatory bowel disease, IL10-related early-onset inflammatory bowel disease, and inflammatory bowel disease. Example IL10RA variants include L2L, L2M, and L2Q.

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 IL10RA variants

Examples include L2L, L2M, L2Q, L2P, P3Q, P3R, P3S, P3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.