Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.A863G
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F5

NM_000130.5:p.A863G

Associated Papers

Factor V variants in bleeding and thrombosis.

Mohapatra AK et al.

Research and Practice in Thrombosis and Haemostasis, 2024

Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.

Mathews N et al.

International Journal of Laboratory Hematology, 2023

A hydrophobic patch (PLVIVG; 1481-1486) in the B-domain of factor V-short is crucial for its synergistic TFPIα-cofactor activity with protein S and for the formation of the FXa-inhibitory complex comprising FV-short, TFPIα, and protein S.

Dahlbäck B et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.

Mehic D et al.

Blood Advances, 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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."