HIF1A (Hypoxia-inducible factor 1-alpha) variants and mutations

HIF1A (also known as Hypoxia-inducible factor 1-alpha) is a human protein-coding gene encoding a hypoxia-inducible factor 1-alpha protein. When oxygen falls, its stabilization activates transcriptional programs that increase glycolysis, angiogenesis, erythropoietic support, and other adaptations to hypoxia. Persistent HIF-1 signaling can help tumors survive oxygen-poor environments and contributes to ischemic and inflammatory disease biology. This analysis covers 1,105 HIF1A variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes Enchondromatosis, breast ductal adenocarcinoma, and colorectal adenocarcinoma. Example HIF1A variants include M1?, E2V, and E2G.

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 HIF1A variants

Examples include M1?, E2V, E2G, E2A, E2E, E2D, G3D, G3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.