KRT6A (Keratin, type II cytoskeletal 6A) variants and mutations

KRT6A (also known as Keratin, type II cytoskeletal 6A) is a human protein-coding gene encoding a keratin, type II cytoskeletal 6A protein. It is induced in palmoplantar, nail-bed, and wound-response epithelia and helps reinforce keratinocytes under mechanical stress. Dominant pathogenic variants cause pachyonychia congenita, often with severe painful plantar keratoderma and nail dystrophy. This analysis covers 1,065 KRT6A variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes pachyonychia congenita, pachyonychia congenita 1, and hereditary disease. Example KRT6A variants include A2T, S3N, and T4A.

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 KRT6A variants

Examples include A2T, S3N, T4A, T4I, S5A, S5C, S5F, T6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.