Episodic pain syndrome, familial, 2: genes and variants
Episodic pain syndrome, familial, 2 is linked to 1 analyzed protein (SCN10A). 1 DNA variants are known to cause it; 79 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 Episodic pain syndrome, familial, 2
SCN10A: Sodium channel protein type 10 subunit alpha
The protein forms Nav1.8, a tetrodotoxin-resistant voltage-gated sodium channel found in excitable membranes. It helps generate sensory-neuron electrical signals and is especially important in mechanisms of neuropathic pain and inherited episodic pain.
1 disease-causing and 79 uncertain variants in SCN10A are linked to Episodic pain syndrome, familial, 2.
Known disease-causing variants in Episodic pain syndrome, familial, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN10A L744Q | 744 | II | Disease-causing (★) |
Diseases related to Episodic pain syndrome, familial, 2
- Amyotrophic lateral sclerosis, also linked to SCN10A
- Cardiac arrhythmia, also linked to SCN10A
- Brugada syndrome, also linked to SCN10A
- Epilepsy, also linked to SCN10A
- Focal epilepsy, also linked to SCN10A
- Lennox-Gastaut syndrome, also linked to SCN10A
Frequently asked questions
Which genes are linked to Episodic pain syndrome, familial, 2?
In CATVariant, Episodic pain syndrome, familial, 2 is linked to 1 analyzed protein: SCN10A (Sodium channel protein type 10 subunit alpha).
How many genetic variants are linked to Episodic pain syndrome, familial, 2?
91 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 79 are of uncertain significance or have conflicting reports.
Which uncertain variants in Episodic pain syndrome, familial, 2 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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