KRT17 (Keratin, type I cytoskeletal 17) variants and mutations

KRT17 (also known as Keratin, type I cytoskeletal 17) is a human protein-coding gene encoding a keratin, type I cytoskeletal 17 protein. It supports structural integrity of nail beds, hair follicles, glands, and stressed epithelia and also influences epithelial growth responses. Dominant pathogenic variants cause pachyonychia congenita and steatocystoma multiplex. This analysis covers 839 KRT17 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes pachyonychia congenita 2, sebocystomatosis, and pachyonychia congenita. Example KRT17 variants include M1T, T2N, and T3A.

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 KRT17 variants

Examples include M1T, T2N, T3A, T3P, S4F, S4P, S4T, I5M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.