Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.R596L
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F2

NM_000506.5:p.R596L

Associated Papers

The Effects of Heparin Binding and Arg596 Mutations on the Conformation of Thrombin-Antithrombin Michaelis Complex, Revealed by Enhanced Sampling Molecular Dynamics Simulations.

Balogh G et al.

International Journal of Molecular Sciences, 2025

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Kang BE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

Comprehensive review of thrombophilia: pathophysiology, prevalence, risk factors, and molecular diagnosis.

Altwayan R et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2025

Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient: A case report.

Wu YF et al.

World Journal of Clinical Cases, 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

Identification of Prothrombin Belgrade Variant in a Mexican-American Family with Recurrent Deep Vein Thrombosis.

Moura Coelho da Silva É et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2025

Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.

Li L et al.

Thrombosis Journal, 2023

Three Cases of Unprovoked Venous Thromboembolism with Prothrombin p.Arg596Gln Variant and a Literature Review of Antithrombin Resistance.

Tsuji A et al.

Internal Medicine (tokyo, Japan), 2023

Evolving Knowledge on Primary and Secondary Prevention of Venous Thromboembolism in Carriers of Hereditary Thrombophilia: A Narrative Review.

Campello E et al.

Seminars in Thrombosis and Hemostasis, 2022

Clinical guidance for peripartum management of patients with hereditary thrombophilia.

Kobayashi T et al.

The Journal of Obstetrics and Gynaecology Research, 2021

Rare Defects: Looking at the Dark Face of the Thrombosis.

D'Andrea G et al.

International Journal of Environmental Research and Public Health, 2021

Genetic risk factors for venous thromboembolism.

Zöller B et al.

Expert Review of Hematology, 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

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

Thrombophilia, risk factors and prevention.

Campello E et al.

Expert Review of Hematology, 2019

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin.

Takenouchi T et al.

European Journal of Medical Genetics, 2019

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Zhang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Vitamin K-Dependent Coagulation Factors That May be Responsible for Both Bleeding and Thrombosis (FII, FVII, and FIX).

Girolami A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Prothrombin: Another Clotting Factor After FV That Is Involved Both in Bleeding and Thrombosis.

Girolami A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Screening and functional exploration of prothrombin Arg596 related mutations in Chinese venous thromboembolism patients.

Wu X et al.

Journal of Clinical Pathology, 2018

Familial pulmonary thromboembolism with a prothrombin mutation and antithrombin resistance.

Yoshida R et al.

Journal of Cardiology Cases, 2018

Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed.

Girolami A et al.

Hematology (amsterdam, Netherlands), 2018

In vitro exploration of latent prothrombin mutants conveying antithrombin resistance.

Tamura S et al.

Thrombosis Research, 2017

New clotting disorders that cast new light on blood coagulation and may play a role in clinical practice.

Girolami A et al.

Journal of Thrombosis and Thrombolysis, 2017

Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism.

Miljic P et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

Genetic Risk Factors in Venous Thromboembolism.

Hotoleanu C

Advances in Experimental Medicine and Biology, 2017

Missense mutations in the gene encoding prothrombin corresponding to Arg596 cause antithrombin resistance and thrombomodulin resistance.

Takagi Y et al.

Thrombosis and Haemostasis, 2016

New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism.

Bulato C et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2016

The first case of antithrombin-resistant prothrombin Belgrade mutation in Japanese.

Kishimoto M et al.

Annals of Hematology, 2016

[Antithrombin resistance: a new mechanism of inherited thrombophilia].

Kojima T et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2015

High prophylactic LMWH dose successfully suppressed hemostatic activation in pregnant woman with a new prothrombin c.1787G>A mutation.

Kovac M et al.

Thrombosis Research, 2015

Antithrombin-resistant prothrombin Yukuhashi mutation also causes thrombomodulin resistance in fibrinogen clotting but not in protein C activation.

Takagi Y et al.

Thrombosis Research, 2014

[Discovery and prospects of a novel thrombophilia: antithrombin resistance].

Takagi Y et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2014

Development of a new laboratory test to evaluate antithrombin resistance in plasma.

Murata M et al.

Thrombosis Research, 2014

A novel prothrombin mutation in two families with prominent thrombophilia--the first cases of antithrombin resistance in a Caucasian population.

Djordjevic V et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Prothrombin mutation conveying antithrombin resistance.

Lotta LA et al.

The New England Journal of Medicine, 2012

Prothrombin mutation conveying antithrombin resistance.

Simioni P et al.

The New England Journal of Medicine, 2012

Thrombosis from a prothrombin mutation conveying antithrombin resistance.

Miyawaki Y et al.

The New England Journal of Medicine, 2012

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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."