IFNAR1 (Interferon alpha/beta receptor 1) variants and mutations

IFNAR1 (also known as Interferon alpha/beta receptor 1) is a human protein-coding gene encoding an interferon alpha/beta receptor 1 protein. Together with IFNAR2, it detects type I interferons and activates JAK-STAT antiviral and immunoregulatory programs. Loss-of-function can impair antiviral defense, while excessive pathway activation contributes to interferon-driven inflammatory disease. This analysis covers 819 IFNAR1 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes immunodeficiency 106, susceptibility to viral infections, melanoma, and neoplasm. Example IFNAR1 variants include M2I, M2V, and M2R.

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 IFNAR1 variants

Examples include M2I, M2V, M2R, V3V, V4A, V4I, V4G, L5P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.