Varaico: Literature-Extracted Genetic Variants

Gene:P2RY12
Variant:p.P341A
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P2RY12

NM_022788.5:p.P341A

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

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

Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders.

Alessi MC et al.

Journal of Clinical Medicine, 2020

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

Differential endosomal sorting of a novel P2Y12 purinoreceptor mutant.

Cunningham MR et al.

Traffic (copenhagen, Denmark), 2013

Arrestin scaffolds NHERF1 to the P2Y12 receptor to regulate receptor internalization.

Nisar SP et al.

The Journal of Biological Chemistry, 2012

An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets.

Nisar S et al.

Blood, 2011

Advances in our understanding of the molecular basis of disorders of platelet function.

Nurden A et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Individual protomers of a G protein-coupled receptor dimer integrate distinct functional modules.

Camp ND et al.

Cell Discovery, 0

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