INSR (Insulin receptor) variants and mutations

INSR (also known as Insulin receptor) is a human protein-coding gene encoding an insulin receptor protein. Its activation by insulin coordinates glucose uptake, metabolism, growth, and gene expression through PI3K-AKT and MAPK pathways. Biallelic severe loss-of-function variants cause Donohue or Rabson-Mendenhall syndromes, while heterozygous variants can cause severe insulin resistance. This analysis covers 1,557 INSR variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes insulin-resistance syndrome type A, Leprechaunism, and Rabson-Mendenhall syndrome. Example INSR variants include A2G, A2S, and T3I.

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, ClinGen, MaveDB, LitVar.

Notable INSR variants

Examples include A2G, A2S, T3I, G4R, G4W, G5D, G5R, G5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.