Ischemic stroke: genes and variants
Ischemic stroke is linked to 5 analyzed proteins (F2, NOTCH3, F5, F10 and SH2B3). 2 DNA variants are known to cause it; 10 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 Ischemic stroke
F2: Prothrombin
After cleavage to thrombin, it converts fibrinogen to fibrin and activates multiple additional coagulation components to amplify clot formation. Deficiency can cause bleeding, whereas the common G20210A variant raises prothrombin levels and increases venous-thrombosis risk.
1 disease-causing and 5 uncertain variants in F2 are linked to Ischemic stroke.
NOTCH3: Neurogenic locus notch homolog protein 3
Its signaling helps maintain vascular smooth-muscle and mural-cell identity in small arteries. Pathogenic cysteine-altering variants cause CADASIL, with migraine, recurrent ischemic strokes, white-matter disease, and progressive cognitive impairment.
1 disease-causing and 0 uncertain variants in NOTCH3 are linked to Ischemic stroke.
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.
0 disease-causing and 5 uncertain variants in F5 are linked to Ischemic stroke.
F10: Coagulation factor X
After activation to factor Xa, it converts prothrombin to thrombin within the prothrombinase complex and therefore occupies a central position in the coagulation cascade. Biallelic deficiency causes a rare bleeding disorder, while factor Xa is a major target of direct oral anticoagulants.
0 disease-causing and 0 uncertain variants in F10 are linked to Ischemic stroke.
SH2B3: SH2B adapter protein 3
It restrains cytokine and growth-factor signaling in hematopoietic cells, including JAK-STAT pathways controlling blood-cell production. Loss-of-function variants can increase blood-cell proliferation and predispose to myeloproliferative neoplasms, while common variants influence autoimmune and hematologic traits.
0 disease-causing and 0 uncertain variants in SH2B3 are linked to Ischemic stroke.
Weakly linked (only a few uncertain records): NOS3.
Known disease-causing variants in Ischemic stroke
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NOTCH3 R153C | 153 | EGF-like 3 | Disease-causing (★★) |
| F2 R500Q | 500 | Peptidase S1 | Disease-causing (★★) |
Same protein, different disease
- Prothrombin deficiency is also caused by F2 variants; they fall mostly in different places as the Ischemic stroke variants (17 disease-causing).
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 is also caused by NOTCH3 variants; they fall mostly in different places as the Ischemic stroke variants (89 disease-causing).
- Lateral meningocele syndrome is also caused by NOTCH3 variants; they fall mostly in different places as the Ischemic stroke variants (12 disease-causing).
- Myofibromatosis, infantile, 2 is also caused by NOTCH3 variants; they fall mostly in different places as the Ischemic stroke variants (12 disease-causing).
Diseases related to Ischemic stroke
- Thrombophilia due to thrombin defect, also linked to F2 and F5
- Pregnancy loss, recurrent, susceptibility to, 1, also linked to F2 and F5
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, also linked to NOTCH3
- Prothrombin deficiency, also linked to F2
- Myofibromatosis, infantile, 2, also linked to NOTCH3
- Hereditary factor X deficiency disease, also linked to F10
- Auditory neuropathy, also linked to NOTCH3
- Factor V deficiency, also linked to F5
- Lateral meningocele syndrome, also linked to NOTCH3
- Adams-Oliver syndrome, also linked to NOTCH3
- Factor X deficiency, also linked to F10
- Thrombocythemia 2, also linked to SH2B3
Frequently asked questions
Which genes are linked to Ischemic stroke?
In CATVariant, Ischemic stroke is linked to 5 analyzed proteins: F2 (Prothrombin), NOTCH3 (Neurogenic locus notch homolog protein 3), F5 (Coagulation factor V), F10 (Coagulation factor X) and SH2B3 (SH2B adapter protein 3).
How many genetic variants are linked to Ischemic stroke?
15 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ischemic stroke 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