Varaico: Literature-Extracted Genetic Variants

Gene:PROCR
Variant:p.S219G
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PROCR

NM_006404.5:p.S219G

Associated Papers

An endothelial RNA splicing atlas catalogs effects of IL-1β and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease.

Golebiewski AK et al.

American Journal of Human Genetics, 2026

Bioinformatic analysis of rare endothelial protein C receptor missense variants associated with coagulation and thrombophilia risk.

Unar A et al.

Scientific Reports, 2025

Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.

Wolford BN et al.

Blood Advances, 2025

Genetic determinants of activated factor VII-antithrombin plasma levels and mortality in patients with coronary artery disease.

Osti N et al.

Thrombosis Research, 2025

Inflammation-Induced Alternative Splicing in Human Endothelial Cells Reveals Genetic Mechanisms of Cardiovascular Disease Risk.

Golebiewski AK et al.

Biorxiv : the Preprint Server for Biology, 2025

Application of Human Genetics to Prioritize Coagulation Cascade Protein Targets for Ischemic Stroke Prevention.

Daghlas I et al.

Stroke, 2025

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach.

Abuagla HA et al.

Frontiers in Genetics, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Venous thromboembolic disease genetics: from variants to function.

Underwood M et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Genetic associations of protein-coding variants in venous thromboembolism.

He XY et al.

Nature Communications, 2024

Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.

Mathey CM et al.

The Journal of Allergy and Clinical Immunology, 2024

Structural and genomic analysis of single nucleotide polymorphisms in human host factor endothelial protein C receptor (EPCR) reveals complex interplay with malaria parasites.

Gill J et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2023

An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis.

Kramer RA et al.

International Journal of Molecular Sciences, 2023

Association of Endothelial Protein C Receptor (EPCR) rs867186 Gene Polymorphism With Increased Levels of Soluble EPCR and High Risk of Severe Malaria and Fatality in Beninese Children.

Blankson SO et al.

The Journal of Infectious Diseases, 2023

The association between EPCR gene p.Ser219Gly polymorphism and venous thromboembolism risk: a case-control study, meta-analysis, and a reproducibility study.

Pituk D et al.

Frontiers in Cardiovascular Medicine, 2023

Markers of Hereditary Thrombophilia with Unclear Significance.

Sachs UJ et al.

Hamostaseologie, 2022

Integrative analyses of genes about venous thromboembolism: An umbrella review of systematic reviews and meta-analyses.

Lee S et al.

Medicine, 2022

Thrombotic Risk Determined by Protein C Receptor (PROCR) Variants among Middle-Aged and Older Adults: A Population-Based Cohort Study.

Manderstedt E et al.

Thrombosis and Haemostasis, 2022

Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus.

Stacey D et al.

Nature Communications, 2022

Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.

Schmitt M et al.

Cancers, 2021

34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1

Determining the association of thrombophilic gene polymorphisms with recurrent pregnancy loss in Iranian women.

Khorshidi F et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020

Genetic risk factors for venous thromboembolism.

Zöller B et al.

Expert Review of Hematology, 2020

Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches.

Quintero-Ronderos P et al.

Reproductive Sciences (thousand Oaks, Calif.), 2020

Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Caucasian Children.

Mateos MK et al.

Cancers, 2020

32438682 (PubMed )
Supplement: cancers-12-01285-s001.pdf

Combined presence of coagulation factor XIII V34L and plasminogen activator inhibitor 1 4G/5G gene polymorphisms significantly contribute to recurrent pregnancy loss in Serbian population.

Joksic I et al.

Journal of Medical Biochemistry, 2020

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

Lindström S et al.

Blood, 2019

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

Genome-wide analysis yields new loci associating with aortic valve stenosis.

Helgadottir A et al.

Nature Communications, 2018

29511194 (PubMed )
Supplement: 41467_2018_3252_MOESM7_ESM.xlsx › Sheet1

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

Associations of activated coagulation factor VII and factor VIIa-antithrombin levels with genome-wide polymorphisms and cardiovascular disease risk.

Olson NC et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

Howson JMM et al.

Nature Genetics, 2017

EPCR Gene Ser219Gly Polymorphism and Venous Thromboembolism: A Meta-Analysis of 9,494 Subjects.

Li YY et al.

Frontiers in Physiology, 2017

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05

Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

Miller CL et al.

Nature Communications, 2016

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

Huang SS et al.

Genetics and Molecular Research : Gmr, 2016

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.

Fidalgo T et al.

European Journal of Haematology, 2015

Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.

Brænne I et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2015

Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study.

Munir MS et al.

Genetic Epidemiology, 2014

Association of the endothelial protein C receptor (PROCR) rs867186-G allele with protection from severe malaria.

Naka I et al.

Malaria Journal, 2014

Functional analysis of two haplotypes of the human endothelial protein C receptor gene.

Medina P et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2014

Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians.

Yin T et al.

Journal of Thrombosis and Thrombolysis, 2014

Endothelial protein C receptor gene variants not associated with severe malaria in ghanaian children.

Schuldt K et al.

Plos One, 2014

Endothelial protein C receptor polymorphisms and risk of severe sepsis in critically ill patients.

Vassiliou AG et al.

Intensive Care Medicine, 2013

Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: the Athero Gene study.

Kallel C et al.

Bmc Medical Genetics, 2012

Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.

Oudot-Mellakh T et al.

British Journal of Haematology, 2012

The endothelial protein C receptor (PROCR) Ser219Gly variant and risk of common thrombotic disorders: a HuGE review and meta-analysis of evidence from observational studies.

Dennis J et al.

Blood, 2012

The endothelial cell protein C receptor: cell surface conductor of cytoprotective coagulation factor signaling.

Gleeson EM et al.

Cellular and Molecular Life Sciences : Cmls, 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."