Thrombophilia due to activated protein C resistance: genes and variants
Thrombophilia due to activated protein C resistance is linked to 1 analyzed protein (F5). 1 DNA variants are known to cause it; 22 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 Thrombophilia due to activated protein C resistance
F5: Coagulation factor V
After activation, it serves as an essential cofactor for factor Xa in the prothrombinase complex and greatly accelerates thrombin generation. Deficiency can cause bleeding, whereas factor V Leiden produces activated-protein-C resistance and substantially increases venous-thrombosis risk.
1 disease-causing and 22 uncertain variants in F5 are linked to Thrombophilia due to activated protein C resistance.
Known disease-causing variants in Thrombophilia due to activated protein C resistance
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F5 I387T | 387 | Plastocyanin-like 3 | Disease-causing |
Same protein, different disease
- Factor V deficiency is also caused by F5 variants; they fall mostly in different places as the Thrombophilia due to activated protein C resistance variants (14 disease-causing).
Diseases related to Thrombophilia due to activated protein C resistance
- Factor V deficiency, also linked to F5
- Thrombophilia due to thrombin defect, also linked to F5
- Ischemic stroke, also linked to F5
- Pregnancy loss, recurrent, susceptibility to, 1, also linked to F5
Frequently asked questions
Which genes are linked to Thrombophilia due to activated protein C resistance?
In CATVariant, Thrombophilia due to activated protein C resistance is linked to 1 analyzed protein: F5 (Coagulation factor V).
How many genetic variants are linked to Thrombophilia due to activated protein C resistance?
39 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 22 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thrombophilia due to activated protein C resistance 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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