FOXA1 (P55317) variants and mutations

FOXA1 (also known as P55317) is a human protein-coding gene encoding a hepatocyte nuclear factor 3-alpha protein. It acts as a pioneer transcription factor that opens compacted chromatin and helps steroid receptors access lineage-specific regulatory regions. Alterations can reprogram androgen- or estrogen-receptor signaling and are important drivers of prostate and breast cancer. This analysis covers 1,966 FOXA1 variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes prostate adenocarcinoma, breast adenocarcinoma, and prostate carcinoma. Example FOXA1 variants include L2F, L2S, and G3A.

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 FOXA1 variants

Examples include L2F, L2S, G3A, G3E, G3R, T4N, V5G, V5M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.