Proteus syndrome: genes and variants
Proteus syndrome is linked to 1 analyzed protein (AKT1). 2 DNA variants are known to cause it; 6 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 Proteus syndrome
AKT1: RAC-alpha serine/threonine-protein kinase
It integrates PI3K-dependent growth-factor signals to promote cell survival, proliferation, glucose metabolism, and protein synthesis. Somatic activating variants occur in multiple cancers, while mosaic activation, especially E17K, causes Proteus syndrome.
2 disease-causing and 6 uncertain variants in AKT1 are linked to Proteus syndrome.
Known disease-causing variants in Proteus syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AKT1 E17K | 17 | PH | Disease-causing (★★) |
| AKT1 E17R | 17 | PH | Disease-causing (★) |
Diseases related to Proteus syndrome
- Cowden syndrome, also linked to AKT1
- Ovarian cancer, also linked to AKT1
- Familial cancer of breast, also linked to AKT1
Frequently asked questions
Which genes are linked to Proteus syndrome?
In CATVariant, Proteus syndrome is linked to 1 analyzed protein: AKT1 (RAC-alpha serine/threonine-protein kinase).
How many genetic variants are linked to Proteus syndrome?
8 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Proteus 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.
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