IL6R (P08887) variants and mutations

IL6R (also known as P08887) is a human protein-coding gene encoding an interleukin-6 receptor subunit alpha protein. It binds IL-6 and signals through gp130 either from the cell surface or as a soluble receptor, allowing both classical and trans-signaling. Genetic and pharmacologic reduction of IL-6 receptor signaling lowers inflammatory activity and is therapeutically useful in several immune-mediated diseases. This analysis covers 759 IL6R variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes rheumatoid arthritis, Eczematoid dermatitis, and COVID-19. Example IL6R variants include L2M, L2L, 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, MaveDB, LitVar.

Notable IL6R variants

Examples include L2M, L2L, L2Q, L2P, A3S, A3T, A3P, A3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.