STAT4 (Q14765) variants and mutations

STAT4 (also known as Q14765) is a human protein-coding gene encoding a signal transducer and activator of transcription 4 protein. It transduces signals from IL-12 and related cytokines to promote Th1 differentiation and IFN-gamma production. Common variants strongly influence susceptibility to autoimmune diseases such as rheumatoid arthritis and systemic lupus erythematosus. This analysis covers 1,017 STAT4 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes disabling pansclerotic morphea of childhood, rheumatoid arthritis, and systemic lupus erythematosus. Example STAT4 variants include S2A, Q3E, and N5S.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable STAT4 variants

Examples include S2A, Q3E, N5S, Q6*, V7A, V7I, V7S, Q9*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.