Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.R541W
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F2

NM_000506.5:p.R541W

Associated Papers

Thrombomodulin Arg403Lys mutation impairs protein C activation and increases thrombosis risk.

Lai Z et al.

Thrombosis Research, 2025

Inherited thrombophilia in a Han Chinese family caused by prothrombin Ile441Met mutation.

Wen SY et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Multigene panel for thrombophilia testing in venous thromboembolism.

Verstraete A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Suchon P et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Heterozygous Prothrombin Mutation-Associated Thrombophilia.

Wu X et al.

Thrombosis and Haemostasis, 2025

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals.

Yamamoto J et al.

Human Genome Variation, 2021

Linkage analysis combined with whole-exome sequencing identifies a novel prothrombin (F2) gene mutation in a Dutch Caucasian family with unexplained thrombosis.

Mulder R et al.

Haematologica, 2020

Prothrombin Arg541Trp Mutation Leads to Defective PC (Protein C) Pathway Activation and Constitutes a Novel Genetic Risk Factor for Venous Thrombosis.

Wu X et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance.

Tang Y et al.

Frontiers in Genetics, 2020

In vitro exploration of latent prothrombin mutants conveying antithrombin resistance.

Tamura S et al.

Thrombosis Research, 2017

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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."