KRT14 (Keratin, type I cytoskeletal 14) variants and mutations

KRT14 (also known as Keratin, type I cytoskeletal 14) is a human protein-coding gene encoding a keratin, type I cytoskeletal 14 protein. It pairs with keratin 5 to provide mechanical strength to basal epidermal keratinocytes. Dominant-negative variants are a major cause of epidermolysis bullosa simplex, while other variants can cause pigmentation disorders or ectodermal phenotypes. This analysis covers 937 KRT14 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes epidermolysis bullosa simplex 1A, generalized severe, epidermolysis bullosa simplex 1C, localized, and Naegeli-Franceschetti-Jadassohn syndrome. Example KRT14 variants include T2A, T2P, and C4Y.

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, MaveDB, LitVar.

Notable KRT14 variants

Examples include T2A, T2P, C4Y, S5G, S5T, R6C, R6H, R6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.