IRS1 (Insulin receptor substrate 1) variants and mutations

IRS1 (also known as Insulin receptor substrate 1) is a human protein-coding gene encoding an insulin receptor substrate 1 protein. It acts as a major intracellular docking protein for insulin and IGF-1 receptors, transmitting signals to PI3K-AKT and other metabolic pathways. Common and rare variation can influence insulin sensitivity and type 2 diabetes risk, although effects are often context dependent. This analysis covers 2,074 IRS1 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, Abnormality of the skeletal system, and cancer. Example IRS1 variants include A2E, A2T, and P4S.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable IRS1 variants

Examples include A2E, A2T, P4S, P5L, P5R, P5S, E6K, S7I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.