HFE (Q30201) variants and mutations

HFE (also known as Q30201) is a human protein-coding gene encoding a hereditary hemochromatosis protein. It helps the liver sense circulating iron availability and regulate hepcidin, thereby controlling intestinal iron absorption and systemic iron distribution. The C282Y variant is the major genetic cause of HFE-related hereditary hemochromatosis and progressive iron overload. This analysis covers 681 HFE variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes hemochromatosis type 1, hereditary hemochromatosis, and familial porphyria cutanea tarda. Example HFE variants include G2S, G2R, and G2A.

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 HFE variants

Examples include G2S, G2R, G2A, G2G, P3L, P3S, P3R, P3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.