KRT10 (Keratin, type I cytoskeletal 10) variants and mutations

KRT10 (also known as Keratin, type I cytoskeletal 10) is a human protein-coding gene encoding a keratin, type I cytoskeletal 10 protein. It forms intermediate filaments with keratin 1 in differentiating epidermal keratinocytes, protecting the upper epidermis from mechanical stress. Dominant pathogenic variants cause epidermolytic ichthyosis, while specific mechanisms can produce ichthyosis with confetti. This analysis covers 926 KRT10 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes epidermolytic hyperkeratosis 2A, autosomal dominant, epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma. Example KRT10 variants include V3A, R4*, and R4P.

Variant analysis overview

Gene: KRT10
Protein: Keratin, type I cytoskeletal 10
UniProt accession: P13645
Organism: Homo sapiens
Variants analyzed: 926
Variant scope: all variants
Completed: 2026-08-22

Variant and mutation evidence

Variant composition: 751 unspecified-consequence records; 5 stop lost; 1 stop retained variant; 35 in-frame deletions; 6 stop-gained variants; 33 synonymous variants; 54 missense variants; 22 frameshift variants; 23 in-frame insertions; 1 protein altering variant; 1 substitution
Prediction scores: 740 variants have prediction scores (80% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: epidermolytic hyperkeratosis 2A, autosomal dominant, epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma, ichthyosis, annular epidermolytic 1, annular epidermolytic ichthyosis, epidermolytic hyperkeratosis 2B, autosomal recessive, pachyonychia congenita, epidermolytic palmoplantar keratoderma, 1, Palmoplantar keratoderma, hereditary palmoplantar keratoderma, autosomal dominant epidermolytic ichthyosis, ichthyosis histrix, Lambert type.

Protein structure and variant hotspots

Protein features: 1 domains; 6 post-translational modification sites.
Structural context: 334 variants have structural context.
PTM context: 9 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KRT10 variants

Examples include V3A, R4*, R4P, R4Q, Y5H, S6C, S8R, S8T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

KRT10 analysis run — KRT10 (926 variants) — completed 2026-08-22