STAT1 (P42224) variants and mutations

STAT1 (also known as P42224) is a human protein-coding gene encoding a signal transducer and activator of transcription 1-alpha/beta protein. It executes interferon-driven transcriptional programs required for antiviral and antimycobacterial immunity. Loss-of-function variants can cause severe infectious susceptibility, whereas gain-of-function variants classically cause chronic mucocutaneous candidiasis and autoimmunity. This analysis covers 1,056 STAT1 variants and mutations. Of these, 47% have computational variant effect predictions. Disease context includes Chronic mucocutaneous candidosis, immunodeficiency 31B, and autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections. Example STAT1 variants include M1?, S2A, and Q3*.

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 STAT1 variants

Examples include M1?, S2A, Q3*, Q3P, Q3R, W4C, Y5*, E6D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.