F11 Variants
Factor XI (FXI) deficiency is caused by variants in the F11 gene, which encodes coagulation Factor XI. Compiled within this database are 272 unique variants in the F11 gene, corresponding to 657 individual cases.
Citing Us
Please reference this website by citing the following publications:
- Harris VA, Lin W, Perkins SJ. Analysis of 272 genetic variants in the upgraded interactive FXI web database reveals new insights into FXI deficiency. 2021; 5: e543-e556. DOI PMID: 35059554
- Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ. Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.Thromb Haemost. 2009; 102: 287-301. PMID: 19652879 Please see F11-2009 for the former website.
- Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. Hum Mutat. 2005; 26: 192-198. PMID: 16086308
What can you do in this database?
This website enables readers to investigate all pathogenic variants reported in the F11 gene prior to April 2021. The database includes sequence, structural and statistical information on the variants.
Additionally, there is an online form enabling readers to submit new variants and contribute to the genetic services provided by this website.
For easy navigation across the website, please click for the Site Map.
Simple Amino Acid Search
Nomenclature: HGVS & Legacy
Have you or someone you know been diagnosed with Factor XI Deficiency?
Latest Release- Version 3.0 (April 2021)
