Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.K174E
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P2RY12

NM_022788.5:p.K174E

Associated Papers

Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.

Zamora-Cánovas A et al.

Biomolecules, 2025

41463295 (PubMed )
Supplement: biomolecules-15-01639-s001.zip › biomolecules-3972089-supplementary.pdf

Molecular Pathogenesis of Inherited Platelet Dysfunction.

Rodríguez-Alén A et al.

Biomolecules, 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 › ST3.3

D121 Located within the DRY Motif of P2Y12 Is Essential for P2Y12-Mediated Platelet Function.

Dangelmaier C et al.

International Journal of Molecular Sciences, 2022

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Nurden P et al.

Haematologica, 2021

Heterozygosity for P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog.

Flores RS et al.

Veterinary Clinical Pathology, 2017

P2Y₁₂ receptor gene mutations associated with bleeding.

Scavone M et al.

Platelets, 2017

Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders.

Lecchi A et al.

Hamostaseologie, 2016

Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis.

Lecchi A et al.

Blood, 2015

Molecular defects of the platelet P2 receptors.

Cattaneo M

Purinergic Signalling, 2011

P2Y12 receptor gene mutation associated with postoperative hemorrhage in a Greater Swiss Mountain dog.

Boudreaux MK et al.

Veterinary Clinical Pathology, 2011

Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study.

Daly ME et al.

Blood, 2009

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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."