IRAG1 (Q9Y6F6) variants and mutations

IRAG1 (also known as Q9Y6F6) is a human protein-coding gene encoding an inositol 1,4,5-triphosphate receptor associated 1 protein. An endoplasmic-reticulum-associated regulator of IP3-dependent calcium release. It recruits protein kinase G and helps translate nitric-oxide signaling into reduced calcium release and inhibition of platelet activation and smooth-muscle contraction. This analysis covers 678 IRAG1 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes migraine disorder, asthma, and Headache. Example IRAG1 variants include G2*, D4N, and L5M.

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, AlphaFold DB, gnomAD constraint, Open Targets, PharmGKB, MaveDB, LitVar.

Notable IRAG1 variants

Examples include G2*, D4N, L5M, P8S, I11V, A14V, G16R, A19V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.