Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.P451L
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P2RX7

NM_002562.6:p.P451L

Associated Papers

P2RX7 Dynamics in CNS Disorders: Molecular Insights and Therapeutic Perspectives.

Mithaiwala A et al.

Molecular Neurobiology, 2025

Establishment and behavioural characterization of a novel constitutive P2X7 receptor knockout mouse line.

von Mücke-Heim IA et al.

Purinergic Signalling, 2025

40024982 (PubMed )
Supplement: 11302_2025_10074_MOESM1_ESM.docx

P2X7 Interactions and Signaling - Making Head or Tail of It.

Kopp R et al.

Frontiers in Molecular Neuroscience, 2019

The presence of the 1068 G>A variant of P2X7 receptors is associated to an increase in IL-1Ra levels, insulin secretion and pancreatic β-cell function but not with glycemic control in type 2 diabetes patients.

Uresti-Rivera EE et al.

Gene, 2018

Inhibition of the P2X7-PANX1 complex suppresses spreading depolarization and neuroinflammation.

Chen SP et al.

Brain : a Journal of Neurology, 2017

Co-Expression of Wild-Type P2X7R with Gln460Arg Variant Alters Receptor Function.

Aprile-Garcia F et al.

Plos One, 2016

Variation in glucose homeostasis traits associated with P2RX7 polymorphisms in mice and humans.

Todd JN et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: association with diseases, impact on receptor functions and potential use as diagnosis biomarkers.

Caseley EA et al.

International Journal of Molecular Sciences, 2014

R270C polymorphism leads to loss of function of the canine P2X7 receptor.

Spildrejorde M et al.

Physiological Genomics, 2014

Insights into the Molecular Mechanisms Underlying Mammalian P2X7 Receptor Functions and Contributions in Diseases, Revealed by Structural Modeling and Single Nucleotide Polymorphisms.

Jiang LH et al.

Frontiers in Pharmacology, 2013

Splice variants of the P2X7 receptor reveal differential agonist dependence and functional coupling with pannexin-1.

Xu XJ et al.

Journal of Cell Science, 2012

Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity.

Sorge RE et al.

Nature Medicine, 2012

Alternative splicing of the N-terminal cytosolic and transmembrane domains of P2X7 controls gating of the ion channel by ADP-ribosylation.

Schwarz N et al.

Plos One, 2012

Association between P2X7 Receptor Polymorphisms and Bone Status in Mice.

Syberg S et al.

Journal of Osteoporosis, 2012

C terminus of the P2X7 receptor: treasure hunting.

Costa-Junior HM et al.

Purinergic Signalling, 2011

Characterisation of the R276A gain-of-function mutation in the ectodomain of murine P2X7.

Adriouch S et al.

Purinergic Signalling, 2009

Identification of Thr283 as a key determinant of P2X7 receptor function.

Young MT et al.

British Journal of Pharmacology, 2006

A truncated P2X7 receptor variant (P2X7-j) endogenously expressed in cervical cancer cells antagonizes the full-length P2X7 receptor through hetero-oligomerization.

Feng YH et al.

The Journal of Biological Chemistry, 2006

A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.

Cabrini G et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

Detection of human P2X7 nucleotide receptor polymorphisms by a novel monocyte pore assay predictive of alterations in lipopolysaccharide-induced cytokine production.

Denlinger LC et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

Cutting edge: a natural P451L mutation in the cytoplasmic domain impairs the function of the mouse P2X7 receptor.

Adriouch S et al.

Journal of Immunology (baltimore, Md. : 1950), 2002

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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."