KRT18 (Keratin, type I cytoskeletal 18) variants and mutations

KRT18 (also known as Keratin, type I cytoskeletal 18) is a human protein-coding gene encoding a keratin, type I cytoskeletal 18 protein. It pairs with keratin 8 to form intermediate filaments in simple epithelia, helping cells withstand mechanical and metabolic stress. Rare variants can increase susceptibility to liver injury, while altered expression is widely used as an epithelial and tumor marker. This analysis covers 863 KRT18 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Cirrhosis, cirrhosis, familial, and metabolic dysfunction-associated steatotic liver disease. Example KRT18 variants include S2N, S2T, and S2S.

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 KRT18 variants

Examples include S2N, S2T, S2S, F3C, T4A, T4I, T4S, T4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.