Epidermal nevus: genes and variants
Epidermal nevus is linked to 2 analyzed proteins (HRAS and NRAS). 4 DNA variants are known to cause it; 13 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 Epidermal nevus
HRAS: GTPase HRas
Its GTP-bound state activates RAF-MEK-ERK and other pathways downstream of growth-factor receptors. Somatic activating variants drive several cancers, while germline activating variants cause Costello syndrome.
3 disease-causing and 3 uncertain variants in HRAS are linked to Epidermal nevus.
NRAS: GTPase NRas
Its active GTP-bound state drives RAF-MEK-ERK and PI3K signaling downstream of growth-factor receptors. Somatic activating variants are common drivers of melanoma, leukemia, and other cancers, while germline activating variants can cause Noonan syndrome.
1 disease-causing and 2 uncertain variants in NRAS are linked to Epidermal nevus.
Weakly linked (only a few uncertain records): FGFR3, PIK3CA and BRAF.
Known disease-causing variants in Epidermal nevus
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HRAS G13R | 13 | Disease-causing (★★) | |
| HRAS Q61K | 61 | Disease-causing (★★) | |
| HRAS G12A | 12 | Disease-causing (★★) | |
| NRAS P34L | 34 | Effector region | Disease-causing |
Same protein, different disease
- Costello syndrome is also caused by HRAS variants; they fall partly in the same places as the Epidermal nevus variants (15 disease-causing).
- RASopathy is also caused by HRAS variants; they fall in the same places as the Epidermal nevus variants (6 disease-causing).
- Large congenital melanocytic nevus is also caused by HRAS variants; they fall in the same places as the Epidermal nevus variants (5 disease-causing).
- Thyroid cancer, nonmedullary, 2 is also caused by HRAS variants; they fall in the same places as the Epidermal nevus variants (3 disease-causing).
- Noonan syndrome is also caused by NRAS variants; they fall mostly in different places as the Epidermal nevus variants (9 disease-causing).
- RASopathy is also caused by NRAS variants; they fall mostly in different places as the Epidermal nevus variants (6 disease-causing).
Diseases related to Epidermal nevus
- Hypertrophic cardiomyopathy, also linked to HRAS and NRAS
- RASopathy, also linked to HRAS and NRAS
- Noonan syndrome, also linked to HRAS and NRAS
- Noonan syndrome and Noonan-related syndrome, also linked to HRAS and NRAS
- Costello syndrome, also linked to HRAS and NRAS
- Linear nevus sebaceous syndrome, also linked to HRAS and NRAS
- Large congenital melanocytic nevus, also linked to HRAS and NRAS
- Cardiofaciocutaneous syndrome, also linked to NRAS
- Acute myeloid leukemia, also linked to NRAS
- Autoimmune lymphoproliferative syndrome, also linked to NRAS
- Colorectal cancer, also linked to NRAS
- Malignant tumor of urinary bladder, also linked to HRAS
Frequently asked questions
Which genes are linked to Epidermal nevus?
In CATVariant, Epidermal nevus is linked to 2 analyzed proteins: HRAS (GTPase HRas) and NRAS (GTPase NRas).
How many genetic variants are linked to Epidermal nevus?
17 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 13 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermal 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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