Gene Information
coagulation factor II, thrombin [Source:HGNC Symbol;Acc:HGNC:3535]
F2 variants are associated with 2 diseases including cerebral sinovenous thrombosis and congenital prothrombin deficiency, with 20 documented clinical phenotypes.
The F2 gene is associated with 2 medical conditions, including:
Research has identified 20 phenotypic features associated with F2 variants:
Cerebral venous thrombosis
HP:0005305
Bruising susceptibility
HP:0000978
Deep venous thrombosis
HP:0002625
Autosomal recessive inheritance
HP:0000007
Congenital onset
HP:0003577
Pulmonary embolism
HP:0002204
Prolonged bleeding time
HP:0003010
Prolonged partial thromboplastin time
HP:0003645
Prolonged prothrombin time
HP:0008151
Recurrent thrombophlebitis
HP:0004419
Childhood onset
HP:0011463
Autosomal dominant inheritance
HP:0000006
Ecchymosis
HP:0031364
Thromboembolism
HP:0001907
Joint hemorrhage
HP:0005261
ClinVar contains 10 variants associated with F2. Below are some notable variants:
NM_000506.5(F2):c.1750C>T (p.Gln584Ter)
Likely pathogenicVCV003721021
Review: criteria provided, single submitter
NM_000506.5(F2):c.1741C>T (p.Arg581Cys)
Pathogenic/Likely pathogenicVCV003721020
Review: criteria provided, multiple submitters, no conflicts
NM_000506.5(F2):c.317-1G>A
Likely pathogenicVCV003599612
Review: criteria provided, single submitter
NM_000506.5(F2):c.1147C>T (p.Arg383Trp)
Uncertain significanceVCV003385081
Review: criteria provided, single submitter
NC_000011.9:g.(?_46746328)_(46748347_?)del
Likely pathogenicVCV003244539
Review: criteria provided, single submitter
There are 12,942 publications about F2 indexed in PubMed. Below are some recent papers:
Assessing the Impact of Different Feedback Mechanisms on Suture Skills Acquisition: A Mixed Methods Study Using Phenomenological and Quantitative Analysis.
Silva Gonçalves N, Collares C, Pêgo JM
PMID: 41259833
•
2025 Nov 18
•
J Surg Educ
Oral microbiome patterns of dental caries in Kazakhstani adolescents.
Issilbayeva A, Jarmukhanov Z, Kozhakhmetov S
PMID: 41259558
•
2025
•
J Appl Oral Sci
Identification of genetic loci influencing fruit and leaf traits in tomato plants.
Akash MW, Shahrour WG, Hasan SM
PMID: 41259466
•
2025
•
Braz J Biol
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y, Li X, Chen Y
PMID: 41259386
•
2025
•
PLoS One
Development of Ac- and Ds-tagged starter lines for large-scale transposon-mutagenesis in tomato.
Kumari A, Ponukumatla R, Pandey AK
PMID: 41259332
•
2025
•
PLoS One
Get instant, comprehensive insights on F2 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025