Varaico: Literature-Extracted Genetic Variants

Gene:STXBP5
Variant:p.N436S
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STXBP5

NM_001127715.4:p.N436S

Associated Papers

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.

Pankratz N et al.

Human Molecular Genetics, 2022

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.

Cygan PH et al.

Thrombosis Research, 2020

The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Flood VH et al.

Current Opinion in Hematology, 2019

Interaction networks of Weibel-Palade body regulators syntaxin-3 and syntaxin binding protein 5 in endothelial cells.

Schillemans M et al.

Journal of Proteomics, 2019

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients.

Lind-Halldén C et al.

Thrombosis and Haemostasis, 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

Novel Thrombotic Function of a Human SNP in STXBP5 Revealed by CRISPR/Cas9 Gene Editing in Mice.

Zhu QM et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2017

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

Huang SS et al.

Genetics and Molecular Research : Gmr, 2016

Syntaxin-binding protein 5 exocytosis regulation: differential role in endothelial cells and platelets.

Lillicrap D

The Journal of Clinical Investigation, 2014

Platelet secretion and hemostasis require syntaxin-binding protein STXBP5.

Ye S et al.

The Journal of Clinical Investigation, 2014

Syntaxin-binding protein STXBP5 inhibits endothelial exocytosis and promotes platelet secretion.

Zhu Q et al.

The Journal of Clinical Investigation, 2014

Genetic variation associated with plasma von Willebrand factor levels and the risk of incident venous thrombosis.

Smith NL et al.

Blood, 2011

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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."