Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.R596W
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F2

NM_000506.5:p.R596W

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

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

Wen SY et al.

Research and Practice in Thrombosis and Haemostasis, 2025

From Circulating Biomarkers to Polymorphic Variants: A Narrative Review of Challenges in Thrombophilia Evaluation.

Miceli G et al.

Journal of Clinical Medicine, 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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

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

Antithrombin Resistance Rescues Clotting Defect of Homozygous Prothrombin-Y510N Dysprothrombinemia.

Lu Y et al.

Thrombosis and Haemostasis, 2022

Genetic risk factors for venous thromboembolism.

Zöller B et al.

Expert Review of Hematology, 2020

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

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

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

"In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate.

Bulato C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Structure-function studies of prothrombin Amrita, a dysfunctional prothrombin characterized by point mutation at Arg553 → Gln.

Melge AR et al.

International Journal of Biological Macromolecules, 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

Paradoxical bleeding and thrombotic episodes of dysprothrombinaemia due to a homozygous Arg382His mutation.

Ding Q et al.

Thrombosis and Haemostasis, 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

Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Switonski M et al.

Journal of Applied Genetics, 2013

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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."