IRF7 (Interferon regulatory factor 7) variants and mutations

IRF7 (also known as Interferon regulatory factor 7) is a human protein-coding gene encoding an interferon regulatory factor 7 protein. During viral infection, it drives type I interferon production, especially in plasmacytoid dendritic cells. Loss-of-function variants can predispose otherwise healthy individuals to life-threatening influenza or other severe viral infections. This analysis covers 1,188 IRF7 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes immunodeficiency 39, hypothyroidism, and systemic lupus erythematosus. Example IRF7 variants include A2V, L3P, and A4T.

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 IRF7 variants

Examples include A2V, L3P, A4T, A4V, P5S, E6K, E6Q, R7G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.