IFNAR2 (Interferon alpha/beta receptor 2) variants and mutations

IFNAR2 (also known as Interferon alpha/beta receptor 2) is a human protein-coding gene encoding an interferon alpha/beta receptor 2 protein. It provides the high-affinity ligand-binding component of the type I interferon receptor complex and triggers antiviral JAK-STAT signaling with IFNAR1. Biallelic loss-of-function variants can predispose to severe viral infections, including critical COVID-19 in some individuals. This analysis covers 720 IFNAR2 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes immunodeficiency 45, COVID-19, and chronic hepatitis B virus infection. Example IFNAR2 variants include L2I, L2F, and L2V.

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 IFNAR2 variants

Examples include L2I, L2F, L2V, L2L, L3S, p.Leu3del, S4G, S4P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.