KRT6B (Keratin, type II cytoskeletal 6B) variants and mutations

KRT6B (also known as Keratin, type II cytoskeletal 6B) is a human protein-coding gene encoding a keratin, type II cytoskeletal 6B protein. It contributes to stress-responsive keratin networks in nail, palmoplantar, and other specialized epithelia. Dominant pathogenic variants can cause pachyonychia congenita with nail dystrophy, painful keratoderma, and variable oral or follicular findings. This analysis covers 1,119 KRT6B variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes pachyonychia congenita 4, pachyonychia congenita, and facial nerve disorder. Example KRT6B variants include A2T, T4I, and S5T.

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 KRT6B variants

Examples include A2T, T4I, S5T, T6A, T6I, T6N, T6P, T7I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.