KRT8 (Keratin, type II cytoskeletal 8) variants and mutations

KRT8 (also known as Keratin, type II cytoskeletal 8) is a human protein-coding gene encoding a keratin, type II cytoskeletal 8 protein. It pairs with keratin 18 to form the major intermediate-filament network of simple epithelial cells and helps protect tissues from mechanical and metabolic stress. Rare variants have been associated with susceptibility to liver and pancreatic disease, although penetrance is variable. This analysis covers 860 KRT8 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Cirrhosis, cirrhosis, familial, and neurodegenerative disease. Example KRT8 variants include M1?, T6A, and Q7P.

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, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KRT8 variants

Examples include M1?, T6A, Q7P, Q7R, K8R, S9A, S9F, S9Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.