IL12RB1 (P42701) variants and mutations

IL12RB1 (also known as P42701) is a human protein-coding gene encoding an interleukin-12 receptor subunit beta-1 protein. It is shared by IL-12 and IL-23 receptor complexes and is required for effective Th1 and Th17 immune responses. Biallelic loss-of-function variants are a common genetic cause of Mendelian susceptibility to mycobacterial disease. This analysis covers 1,181 IL12RB1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes immunodeficiency disease, Oral ulcer, and systemic sclerosis. Example IL12RB1 variants include E2G, P3L, and P3Q.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IL12RB1 variants

Examples include E2G, P3L, P3Q, P3R, V5G, V5L, V5M, T6P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.