KRT4 (Keratin, type II cytoskeletal 4) variants and mutations

KRT4 (also known as Keratin, type II cytoskeletal 4) is a human protein-coding gene encoding a keratin, type II cytoskeletal 4 protein. It contributes to intermediate filaments in non-keratinized mucosal epithelia, especially oral and esophageal surfaces. Dominant pathogenic variants can cause white sponge nevus, producing benign thickened white plaques of the mucosa. This analysis covers 968 KRT4 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes white sponge nevus 1, White sponge nevus, and hereditary disease. Example KRT4 variants include M1?, I2T, and A3T.

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 KRT4 variants

Examples include M1?, I2T, A3T, A3V, R4K, Q5*, Q5E, Q5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.