Varaico: Literature-Extracted Genetic Variants

Gene:P2RX4
Variant:p.Y42*
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P2RX4

NM_002560.3:p.Y42*

Associated Papers

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.

Georges A et al.

Cardiovascular Research, 2021

32531060 (PubMed )
Supplement: cvaa161_supplementary_data.docx

Roles of conserved ectodomain cysteines of the rat P2X4 purinoreceptor in agonist binding and channel gating.

Rokic MB et al.

Physiological Research, 2010

Conserved extracellular cysteines differentially regulate the inhibitory effect of ethanol in rat P2X4 receptors.

Yi CL et al.

Biochemical and Biophysical Research Communications, 2009

Dissecting the facilitator and inhibitor allosteric metal sites of the P2X4 receptor channel: critical roles of CYS132 for zinc potentiation and ASP138 for copper inhibition.

Coddou C et al.

The Journal of Biological Chemistry, 2007

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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."