Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.I814V
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F5

NM_000130.5:p.I814V

Associated Papers

Importance of individual residues in hydrophobic patch PLVIVGL (1481-1487) in FV-Short for synergistic TFPIα cofactor activity with protein S, an alanine-scanning study: AlphaFold-mediated prediction of FV-Short/TFPIα/protein S trimolecular complex structure.

Dahlbäck B et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

How to investigate mild to moderate bleeding disorders and bleeding disorder of unknown cause.

Casini A et al.

International Journal of Laboratory Hematology, 2024

Factor V variants in bleeding and thrombosis.

Mohapatra AK et al.

Research and Practice in Thrombosis and Haemostasis, 2024

The TFPIα C-terminal tail is essential for TFPIα-FV-short-protein S complex formation and synergistic enhancement of TFPIα.

Gierula M et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Impaired factor V-related anticoagulant mechanisms and deep vein thrombosis associated with A2086D and W1920R mutations.

Shimonishi N et al.

Blood Advances, 2023

Regulation of factor V by the anticoagulant protease activated protein C: Influence of the B-domain and TFPIα.

Ayombil F et al.

The Journal of Biological Chemistry, 2022

The preAR2 region (1458-1492) in factor V-Short is crucial for the synergistic TFPIα-cofactor activity with protein S and the assembly of a trimolecular factor Xa-inhibitory complex comprising FV-Short, protein S, and TFPIα.

Dahlbäck B et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Natural anticoagulants: A missing link in mild to moderate bleeding tendencies.

Mehic D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production.

Zimowski KL et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Severe thrombophilia in a factor V-deficient patient homozygous for the Ala2086Asp mutation (FV Besançon).

Castoldi E et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Factor V mutation illuminates the dominant anticoagulant role and importance of an unidentified platelet modifier.

Ahnström J et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Investigation of patients with unclassified bleeding disorder and abnormal thrombin generation for physiological coagulation inhibitors reveals multiple abnormalities and a subset of patients with increased tissue factor pathway inhibitor activity.

MacDonald S et al.

International Journal of Laboratory Hematology, 2020

New data on FII, FV, FIX and thrombomodulin defects: blood keeps clotting in normal and in peculiar ways.

Girolami A et al.

Hematology (amsterdam, Netherlands), 2019

Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII.

Shao Y et al.

Blood, 2019

New functional test for the TFPIα cofactor activity of Protein S working in synergy with FV-Short.

Dahlbäck B et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

Coagulation factor V gene 1691G>A polymorphism as an indicator for risk and prognosis of lower extremity deep venous thrombosis in Chinese Han population.

Zhang CL et al.

Medicine, 2018

Pro- and anticoagulant properties of factor V in pathogenesis of thrombosis and bleeding disorders.

Dahlbäck B

International Journal of Laboratory Hematology, 2016

A novel mutation in the F5 gene (factor V Amsterdam) associated with bleeding independent of factor V procoagulant function.

Cunha ML et al.

Blood, 2015

Factor V, tissue factor pathway inhibitor, and east Texas bleeding disorder.

Broze GJ et al.

The Journal of Clinical Investigation, 2013

Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα.

Vincent LM et al.

The Journal of Clinical Investigation, 2013

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

Regulation of factor V and factor V-short by TFPIα: Relationship between B-domain proteolysis and binding.

Petrillo T et al.

The Journal of Biological Chemistry, 0

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