IL6 (Interleukin-6) variants and mutations

IL6 (also known as Interleukin-6) is a human protein-coding gene encoding an interleukin-6 protein. It coordinates acute-phase responses, fever, B-cell differentiation, and inflammatory signaling through JAK-STAT and related pathways. Excessive production contributes to autoimmune disease and cytokine-release syndromes, making IL-6 pathway blockade an important therapy. This analysis covers 525 IL6 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes asthma, rheumatoid arthritis, and immune system disorder. Example IL6 variants include N2I, S3F, and S3P.

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 IL6 variants

Examples include N2I, S3F, S3P, S3S, F4L, F4V, p.Phe4del, F4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.