FAT2 (Protocadherin Fat 2) variants and mutations

FAT2 (also known as Protocadherin Fat 2) is a human protein-coding gene encoding a protocadherin Fat 2 protein. Its annotated function is involved in the regulation of cell migration. It is annotated at the cell membrane. This analysis covers 9,375 FAT2 variants and mutations. Of these, 46% have computational variant effect predictions. Disease context includes Autosomal dominant cerebellar ataxia type 1, vaginal cancer, and metabolic disease. Example FAT2 variants include T2A, T2I, and T2S.

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, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable FAT2 variants

Examples include T2A, T2I, T2S, I3T, A4V, L5V, G7C, G7S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.