KRT9 (Keratin, type I cytoskeletal 9) variants and mutations

KRT9 (also known as Keratin, type I cytoskeletal 9) is a human protein-coding gene encoding a keratin, type I cytoskeletal 9 protein. It is highly enriched in palm and sole epidermis and reinforces keratinocytes exposed to repetitive mechanical load. Dominant pathogenic variants cause epidermolytic palmoplantar keratoderma with thickening and fragility of palms and soles. This analysis covers 1,176 KRT9 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes epidermolytic palmoplantar keratoderma, 1, palmoplantar keratoderma, epidermolytic, and Localized epidermolytic hyperkeratosis. Example KRT9 variants include S2N, C3S, and C3Y.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KRT9 variants

Examples include S2N, C3S, C3Y, R4K, Q5E, Q5P, Q5R, F6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.