Ichthyosis bullosa of Siemens: genes and variants
Ichthyosis bullosa of Siemens is linked to 1 analyzed protein (KRT2). 8 DNA variants are known to cause it; 12 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 Ichthyosis bullosa of Siemens
KRT2: Keratin, type II cytoskeletal 2 epidermal
It reinforces differentiated keratinocytes in the upper epidermis and contributes to barrier integrity. Dominant pathogenic variants cause superficial epidermolytic ichthyosis, typically with blistering or hyperkeratosis that is milder and more superficial than classic epidermolytic ichthyosis.
8 disease-causing and 12 uncertain variants in KRT2 are linked to Ichthyosis bullosa of Siemens.
Where Ichthyosis bullosa of Siemens variants cluster
- KRT2 Coil 1A (positions 178–213): 4 of 8 disease-causing changes, 8.9× more than its size predicts.
- KRT2 Coil 2 (positions 349–487): 3 of 8 disease-causing changes, 1.7× more than its size predicts.
Known disease-causing variants in Ichthyosis bullosa of Siemens
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT2 E487K | 487 | IF rod | Disease-causing (★★) |
| KRT2 E488K | 488 | IF rod | Disease-causing (★★) |
| KRT2 N186S | 186 | IF rod | Disease-causing (★) |
| KRT2 Q181P | 181 | IF rod | Disease-causing (★) |
| KRT2 N186D | 186 | IF rod | Disease-causing |
| KRT2 N186Y | 186 | IF rod | Disease-causing |
| KRT2 E487D | 487 | IF rod | Disease-causing |
| KRT2 E476K | 476 | IF rod | Disease-causing |
Frequently asked questions
Which genes are linked to Ichthyosis bullosa of Siemens?
In CATVariant, Ichthyosis bullosa of Siemens is linked to 1 analyzed protein: KRT2 (Keratin, type II cytoskeletal 2 epidermal).
How many genetic variants are linked to Ichthyosis bullosa of Siemens?
37 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ichthyosis bullosa of Siemens 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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