IFNG (Interferon gamma) variants and mutations

IFNG (also known as Interferon gamma) is a human protein-coding gene encoding an interferon gamma protein. It activates macrophages, enhances antigen presentation, and coordinates cellular immunity against intracellular pathogens through STAT1-dependent transcription. Disruption of its signaling causes profound susceptibility to mycobacterial infection, while excessive production contributes to immune-mediated tissue injury. This analysis covers 473 IFNG variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes immunodeficiency 69, Primary hemophagocytic lymphohistiocytosis, and hemophagocytic syndrome. Example IFNG variants include K2T, K2K, and K2R.

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 IFNG variants

Examples include K2T, K2K, K2R, K2I, K2*, K2E, Y3*, Y3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.