Epidermolytic nevus: genes and variants
Epidermolytic nevus is linked to 1 analyzed protein (KRT10). 5 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Epidermolytic nevus
KRT10: Keratin, type I cytoskeletal 10
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.
5 disease-causing and 0 uncertain variants in KRT10 are linked to Epidermolytic nevus.
Where Epidermolytic nevus variants cluster
- KRT10 Coil 1A (positions 146–181): 5 of 5 disease-causing changes, 16.2× more than its size predicts.
Known disease-causing variants in Epidermolytic nevus
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT10 R156C | 156 | IF rod | Disease-causing (★★) |
| KRT10 R156G | 156 | IF rod | Disease-causing (★★) |
| KRT10 R156S | 156 | IF rod | Disease-causing (★★) |
| KRT10 R156L | 156 | IF rod | Disease-causing (★★) |
| KRT10 R156P | 156 | IF rod | Disease-causing (★★) |
Same protein, different disease
- Epidermolytic hyperkeratosis 2A, autosomal dominant is also caused by KRT10 variants; they fall mostly in different places as the Epidermolytic nevus variants (7 disease-causing).
Diseases related to Epidermolytic nevus
- Pachyonychia congenita, also linked to KRT10
- Epidermolytic palmoplantar keratoderma, 1, also linked to KRT10
- Epidermolytic hyperkeratosis 2A, autosomal dominant, also linked to KRT10
- Annular epidermolytic ichthyosis, also linked to KRT10
- Ichthyosis and erythrokeratoderma, also linked to KRT10
- Epidermolytic ichthyosis, also linked to KRT10
- Autosomal dominant epidermolytic ichthyosis, also linked to KRT10
- Ichthyosis, annular epidermolytic 1, also linked to KRT10
- Congenital reticular ichthyosiform erythroderma, also linked to KRT10
Frequently asked questions
Which genes are linked to Epidermolytic nevus?
In CATVariant, Epidermolytic nevus is linked to 1 analyzed protein: KRT10 (Keratin, type I cytoskeletal 10).
How many genetic variants are linked to Epidermolytic nevus?
5 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolytic nevus look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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