FOXI1 (Forkhead box protein I1) variants and mutations

FOXI1 (also known as Forkhead box protein I1) is a human protein-coding gene encoding a forkhead box protein I1 protein. It regulates genes needed for acid-base transport in kidney intercalated cells and ion homeostasis in the inner ear. Biallelic pathogenic variants can cause enlarged vestibular aqueduct with hearing loss, and disruption can also affect renal acidification. This analysis covers 933 FOXI1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, and hearing loss disorder. Example FOXI1 variants include S2R, S2G, and S2I.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable FOXI1 variants

Examples include S2R, S2G, S2I, S2S, S3F, S3P, S3S, F4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.