Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.K196E
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PROS1

NM_000313.4:p.K196E

Associated Papers

A case of protein S-specific activity triggers detection with potential thrombosis development.

Yamada H et al.

Journal of Vascular Surgery Cases and Innovative Techniques, 2026

Factor V Leiden Mutation Diagnosed After the Onset of DVT During Pregnancy in a Woman of Half-Japanese, Half-European Descent.

Shimizu K et al.

Internal Medicine (tokyo, Japan), 2026

Recurrent ischemic strokes caused by hereditary protein S deficiency from a novel PROS1 mutation: a case report.

Huang MY et al.

Bmc Neurology, 2025

[Advances in the genetics of venous thromboembolic disease].

Xia YQ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in Thrombosis and Hemostasis, 2024

Thrombosis-related characteristics of pregnant women with antithrombin deficiency, protein C deficiency and protein S deficiency in Japan.

Kobayashi T et al.

Thrombosis Journal, 2024

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 › ST3.5

A case of ischemic stroke associated with protein-losing gastroenteropathy and protein S deficiency.

Kimoto K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2023

Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn.

Shirozu H et al.

Ajp Reports, 2023

Peripartum management of hereditary thrombophilia: results of primary surveillance in Japan.

Kobayashi T et al.

International Journal of Hematology, 2022

Clinical guidance for peripartum management of patients with hereditary thrombophilia.

Kobayashi T et al.

The Journal of Obstetrics and Gynaecology Research, 2021

Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.

Do MD et al.

International Journal of Laboratory Hematology, 2021

Genomic Analysis for the Detection of Bleeding and Thrombotic Disorders.

Gomez K

Seminars in Thrombosis and Hemostasis, 2021

Recommendations for clinical laboratory testing for protein S deficiency: Communication from the SSC committee plasma coagulation inhibitors of the ISTH.

Marlar RA et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism.

Tsuda H et al.

Research and Practice in Thrombosis and Haemostasis, 2020

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.

Cho A et al.

Molecular Genetics & Genomic Medicine, 2020

A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.

Xu J et al.

Journal of Clinical Laboratory Analysis, 2020

Predictive value of protein S-specific activity and ELISA testing in patients with the protein S K196E mutation.

Miyoshi T et al.

Thrombosis Research, 2020

[Diagnosis and management of early-onset thrombophilia/thrombosis: a review].

Ohga S et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2020

Plasma phenotypes of protein S Lys196Glu and protein C Lys193del variants prevalent among young Japanese women.

Noguchi K et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2019

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Natural anticoagulant deficiencies in Thais: A population-based study.

Rojnuckarin P et al.

Thrombosis Research, 2019

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.

Li L et al.

Thrombosis and Haemostasis, 2019

Early Identification of Protein S K196E Mutation in a Patient With Cerebral Venous Thrombosis: A Case Report.

Fujita K et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2019

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

Protein S K196E mutation reduces its cofactor activity for APC but not for TFPI.

Maruyama K et al.

Research and Practice in Thrombosis and Haemostasis, 2018

Distinctive regional-specific PROS1 mutation spectrum in Southern China.

Chan NCN et al.

Journal of Thrombosis and Thrombolysis, 2018

What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies.

Trégouët DA et al.

British Journal of Haematology, 2018

Recurrent deep vein thrombosis with a protein S Tokushima mutation.

Torai R et al.

The British Journal of Dermatology, 2018

Rivaroxaban Treatment for Warfarin-Refractory Thrombosis in a Patient with Hereditary Protein S Deficiency.

Ameku K et al.

Case Reports in Hematology, 2018

Genotyping analysis of protein S-Tokushima (K196E) and the involvement of protein S antigen and activity in patients with recurrent pregnancy loss.

Matsukawa Y et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2017

High prevalence of congenital thrombophilia in patients with pregnancy-related or idiopathic venous thromboembolism/pulmonary embolism.

Ikejiri M et al.

International Journal of Hematology, 2017

Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.

Sekiya A et al.

International Journal of Hematology, 2017

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

De Vilder EY et al.

International Journal of Molecular Sciences, 2017

28125048 (PubMed )
Supplement: ijms-18-00240-s001.zip › Table_S2-GGCX_paper_ExclusionCriteria_20161214.xlsx › pubmed_result

Genetic Risk Factors in Venous Thromboembolism.

Hotoleanu C

Advances in Experimental Medicine and Biology, 2017

Plasminogen Tochigi mice exhibit phenotypes similar to wild-type mice under experimental thrombotic conditions.

Tashima Y et al.

Plos One, 2017

Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans.

Daneshjou R et al.

Molecular Genetics & Genomic Medicine, 2016

Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis.

Alsultan A et al.

Thrombosis Research, 2016

Common genetic risk factors of venous thromboembolism in Western and Asian populations.

Huang SS et al.

Genetics and Molecular Research : Gmr, 2016

Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism.

Ichiyama M et al.

Pediatric Research, 2016

Thrombophilia in East Asian countries: are there any genetic differences in these countries?

Miyata T et al.

Thrombosis Journal, 2016

Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation.

Banno F et al.

Blood, 2015

Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency.

Taniguchi F et al.

Thrombosis Research, 2015

ELISA-Based Detection System for Protein S K196E Mutation, a Genetic Risk Factor for Venous Thromboembolism.

Maruyama K et al.

Plos One, 2015

Nonsynonymous mutations in three anticoagulant genes in Japanese patients with adverse pregnancy outcomes.

Neki R et al.

Thrombosis Research, 2014

Clinical features and underlying causes of cerebral venous thrombosis in Japanese patients.

Shindo A et al.

International Journal of Hematology, 2014

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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."