KRT13 (Keratin, type I cytoskeletal 13) variants and mutations

KRT13 (also known as Keratin, type I cytoskeletal 13) is a human protein-coding gene encoding a keratin, type I cytoskeletal 13 protein. It contributes to intermediate filaments in non-keratinized stratified epithelia such as oral and esophageal mucosa. Dominant pathogenic variants can cause white sponge nevus, a benign disorder characterized by thickened white mucosal plaques. This analysis covers 838 KRT13 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes White sponge nevus, hereditary disease, and neoplasm. Example KRT13 variants include R4C, R4G, and R4H.

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 KRT13 variants

Examples include R4C, R4G, R4H, R4L, L5R, Q6H, S7N, S9C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.