Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
AHF,DXS1253E,F8B,F8C,FVIII,HEMA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2157
MIM: 300841
HGNC: 3546
Ensembl: ENSG00000185010
Variants:
dbSNP: 2157
ClinVar: 2157
TCGA: ENSG00000185010
COSMIC: F8
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37925034 | 2024 | The role of proteolytic cleavage at Arg(336) and Arg(372) of the A1 domain in factor VIIa/tissue factor-catalyzed reactions of B domain-deleted factor VIII. | 0 |
| 37962303 | 2024 | An intronic RNA element modulates Factor VIII exon-16 splicing. | 1 |
| 38317480 | 2024 | Long-term safety and efficacy outcomes of valoctocogene roxaparvovec gene transfer up to 6 years post-treatment. | 1 |
| 38320121 | 2024 | A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. | 0 |
| 38631156 | 2024 | In-depth structure-function profiling of the complex formation between clotting factor VIII and heme. | 0 |
| 37925034 | 2024 | The role of proteolytic cleavage at Arg(336) and Arg(372) of the A1 domain in factor VIIa/tissue factor-catalyzed reactions of B domain-deleted factor VIII. | 0 |
| 37962303 | 2024 | An intronic RNA element modulates Factor VIII exon-16 splicing. | 1 |
| 38317480 | 2024 | Long-term safety and efficacy outcomes of valoctocogene roxaparvovec gene transfer up to 6 years post-treatment. | 1 |
| 38320121 | 2024 | A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. | 0 |
| 38631156 | 2024 | In-depth structure-function profiling of the complex formation between clotting factor VIII and heme. | 0 |
| 35924581 | 2023 | Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association. | 1 |
| 36240294 | 2023 | Mechano-covalent protection of coagulation factor VIII by von Willebrand factor. | 1 |
| 36322904 | 2023 | Factor VIII mutated with Lys1813Ala within the factor IXa-binding region enhances intrinsic coagulation potential. | 0 |
| 37726033 | 2023 | Coagulation factor VIII regulates von Willebrand factor homeostasis invivo. | 1 |
| 35924581 | 2023 | Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association. | 1 |
Citation
Dessen P
F8 (coagulation factor VIII)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45656/f8
