KRT2 (P35908) variants and mutations

KRT2 (also known as P35908) is a human protein-coding gene encoding a keratin, type II cytoskeletal 2 epidermal protein. It reinforces differentiated keratinocytes in the upper epidermis and contributes to barrier integrity. Dominant pathogenic variants cause superficial epidermolytic ichthyosis, typically with blistering or hyperkeratosis that is milder and more superficial than classic epidermolytic ichthyosis. This analysis covers 1,139 KRT2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes superficial epidermolytic ichthyosis, exfoliative ichthyosis, and hereditary disease. Example KRT2 variants include S2T, C3*, and C3G.

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 KRT2 variants

Examples include S2T, C3*, C3G, I5N, C7R, R10*, R10Q, R12G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.