Melanoma and neural system tumor syndrome: genes and variants
Melanoma and neural system tumor syndrome is linked to 1 analyzed protein (CDKN2A). 5 DNA variants are known to cause it; 33 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 Melanoma and neural system tumor syndrome
CDKN2A: Tumor suppressor ARF
The ARF product of CDKN2A is a tumor-suppressor protein that binds MDM2 and helps preserve p53 activity. By promoting cell-cycle arrest and apoptosis, it provides an important barrier to uncontrolled cell growth from within the nucleolus.
5 disease-causing and 33 uncertain variants in CDKN2A are linked to Melanoma and neural system tumor syndrome.
Known disease-causing variants in Melanoma and neural system tumor syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CDKN2A V46G | 46 | Interaction with CDK5RAP3 and MDM2 | Disease-causing (★★) |
| CDKN2A M48I | 48 | Interaction with CDK5RAP3 and MDM2 | Disease-causing (★★) |
| CDKN2A D68N | 68 | Disease-causing (★★) | |
| CDKN2A S73R | 73 | Disease-causing (★★) | |
| CDKN2A P126R | 126 | Disease-causing (★★) |
Same protein, different disease
- Familial melanoma is also caused by CDKN2A variants; they fall mostly in different places as the Melanoma and neural system tumor syndrome variants (15 disease-causing).
- Melanoma-pancreatic cancer syndrome is also caused by CDKN2A variants; they fall partly in the same places as the Melanoma and neural system tumor syndrome variants (11 disease-causing).
- Melanoma, cutaneous malignant, susceptibility to, 8 is also caused by CDKN2A variants; they fall mostly in different places as the Melanoma and neural system tumor syndrome variants (6 disease-causing).
Diseases related to Melanoma and neural system tumor syndrome
- Alzheimer disease, also linked to CDKN2A
- Familial melanoma, also linked to CDKN2A
- Non-small cell lung carcinoma, also linked to CDKN2A
- Melanoma, cutaneous malignant, susceptibility to, 8, also linked to CDKN2A
- Melanoma-pancreatic cancer syndrome, also linked to CDKN2A
- Lung adenocarcinoma, also linked to CDKN2A
- Hepatocellular carcinoma, also linked to CDKN2A
- Melanoma, also linked to CDKN2A
- Parkinson disease, also linked to CDKN2A
Frequently asked questions
Which genes are linked to Melanoma and neural system tumor syndrome?
In CATVariant, Melanoma and neural system tumor syndrome is linked to 1 analyzed protein: CDKN2A (Tumor suppressor ARF).
How many genetic variants are linked to Melanoma and neural system tumor syndrome?
40 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 33 are of uncertain significance or have conflicting reports.
Which uncertain variants in Melanoma and neural system tumor syndrome 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.
Download every variant as CSV · Browse all diseases · Methods · About the Center