Familial apolipoprotein C-II deficiency: genes and variants
Familial apolipoprotein C-II deficiency is linked to 1 analyzed protein (APOC2). 1 DNA variants are known to cause it; 11 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 Familial apolipoprotein C-II deficiency
APOC2: Apolipoprotein C-II
By activating lipoprotein lipase, it enables hydrolysis of triglycerides in chylomicrons and very-low-density lipoproteins. Biallelic deficiency causes familial chylomicronemia with extreme hypertriglyceridemia and recurrent pancreatitis.
1 disease-causing and 11 uncertain variants in APOC2 are linked to Familial apolipoprotein C-II deficiency.
Known disease-causing variants in Familial apolipoprotein C-II deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOC2 W48R | 48 | Disease-causing |
Diseases related to Familial apolipoprotein C-II deficiency
- Hyperlipoproteinemia, also linked to APOC2
Frequently asked questions
Which genes are linked to Familial apolipoprotein C-II deficiency?
In CATVariant, Familial apolipoprotein C-II deficiency is linked to 1 analyzed protein: APOC2 (Apolipoprotein C-II).
How many genetic variants are linked to Familial apolipoprotein C-II deficiency?
25 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial apolipoprotein C-II deficiency 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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