KRT12 (Keratin, type I cytoskeletal 12) variants and mutations

KRT12 (also known as Keratin, type I cytoskeletal 12) is a human protein-coding gene encoding a keratin, type I cytoskeletal 12 protein. It pairs with keratin 3 to form the characteristic intermediate-filament network of corneal epithelial cells. Dominant pathogenic variants cause Meesmann corneal dystrophy, with epithelial microcysts, irritation, and variable visual symptoms. This analysis covers 859 KRT12 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes Meesmann corneal dystrophy, hereditary disease, and posterior polymorphous corneal dystrophy. Example KRT12 variants include M1?, D2G, and D2V.

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 KRT12 variants

Examples include M1?, D2G, D2V, N5K, N5S, N6D, N6K, N6T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.