Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.V285M
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P2RX7

NM_002562.6:p.V285M

Associated Papers

P2X7 Variants in Pathophysiology.

Pegoraro A et al.

International Journal of Molecular Sciences, 2024

Human P2X7 receptor variants Gly150Arg and Arg276His polymorphisms have differential effects on risk association and cellular functions in pancreatic cancer.

Magni L et al.

Cancer Cell International, 2024

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

Functional variant of the P2X7 receptor gene is associated with human papillomavirus-16 positive cervical squamous cell carcinoma.

Yang YC et al.

Oncotarget, 2016

Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjögren's syndrome.

Lester S et al.

Arthritis Research & Therapy, 2013

Role of purinergic receptor polymorphisms in human bone.

Wesselius A et al.

Frontiers in Bioscience (landmark Edition), 2011

Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.

Stokes L et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

Genetics of the P2X7 receptor and human disease.

Fuller SJ et al.

Purinergic Signalling, 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."