Varaico: Literature-Extracted Genetic Variants

Gene:P2RX4
Variant:p.Y315C
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P2RX4

NM_002560.3:p.Y315C

Associated Papers

Association of polymorphisms within P2RX4 with type 2 diabetes mellitus: a preliminary case-control study.

Noori H et al.

Nucleosides, Nucleotides & Nucleic Acids, 2025

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank.

Alharbi AF et al.

Npj Genomic Medicine, 2021

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 2017

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.

Gu BJ et al.

Human Molecular Genetics, 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

A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration.

Gu BJ et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Non-synonymous polymorphisms in the P2RX ( 4 ) are related to bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.

Wesselius A et al.

Purinergic Signalling, 2013

A loss-of-function polymorphism in the human P2X4 receptor is associated with increased pulse pressure.

Stokes L et al.

Hypertension (dallas, Tex. : 1979), 2011

Latest Development on Genetics of Common Retinal Diseases.

Chen LJ et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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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."