FOXO1 (Forkhead box protein O1) variants and mutations

FOXO1 (also known as Forkhead box protein O1) is a human protein-coding gene encoding a forkhead box protein O1 protein. It integrates insulin, growth-factor, and stress signals to control glucose metabolism, cell-cycle arrest, oxidative-stress responses, and apoptosis. Inactivation downstream of AKT is central to insulin action, while chromosomal fusions involving FOXO1 drive alveolar rhabdomyosarcoma. This analysis covers 1,139 FOXO1 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes Burkitt lymphoma, hypothyroidism, and uterine corpus leiomyoma. Example FOXO1 variants include M1?, A2T, and A4V.

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 FOXO1 variants

Examples include M1?, A2T, A4V, P5L, Q6*, Q6L, V7E, V7G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.