Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.E496A
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P2RX7

NM_002562.6:p.E496A

Associated Papers

Phenome-wide association study of P2RX7 identifies schizophrenia and mood disorders as primary associated phenotypes.

Zhu L et al.

Journal of Affective Disorders, 2026

Rat P2X7 Receptor Show Functional Independence Between Macropore Formation and Scavenger Activity.

Mena J et al.

International Journal of Molecular Sciences, 2026

Association of immune relevant single nucleotide polymorphisms with ALK-positive anaplastic large cell lymphoma presentation and outcome: results of the immuno ALCL study.

Adriana P et al.

Journal of Translational Medicine, 2025

Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions.

Wingo AP et al.

Nature Genetics, 2025

Purinergic P2X receptor 7 (P2X7R) inhibition induced cytotoxicity in glioblastoma.

Drill M et al.

Plos One, 2025

P2RX7, an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset.

Shani S et al.

Journal of Parkinson's Disease, 2024

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

Characterization of Common Genetic Variants in P2RX7 and Their Contribution to Chronic Pain Conditions.

Zorina-Lichtenwalter K et al.

The Journal of Pain, 2024

Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis.

Guerini FR et al.

International Journal of Molecular Sciences, 2022

Origin, distribution, and function of three frequent coding polymorphisms in the gene for the human P2X7 ion channel.

Schäfer W et al.

Frontiers in Pharmacology, 2022

The effect of genetic polymorphisms on treatment duration following premolar extraction.

Yu J et al.

Scientific Reports, 2021

Association of P2X7 receptor genetic polymorphisms and expression with rheumatoid arthritis susceptibility in a sample of the Iranian population: a case-control study.

Bahari G et al.

Clinical Rheumatology, 2021

Predicted the P2RX7 rs3751143 polymorphism is associated with cancer risk: a meta-analysis and systematic review.

Wang BJ et al.

Bioscience Reports, 2021

P2X7 Variants in Oncogenesis.

Pegoraro A et al.

Cells, 2021

Associations Between the Purinergic Receptor P2X7 and Leprosy Disease.

Souza RDC et al.

Frontiers in Genetics, 2021

Association between P2X7 Polymorphisms and Post-Transplant Outcomes in Allogeneic Haematopoietic Stem Cell Transplantation.

Koldej RM et al.

International Journal of Molecular Sciences, 2020

Association of P2RX7 functional variants with localized aggressive periodontitis.

Harris TH et al.

Journal of Periodontal Research, 2020

Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression.

Peng T et al.

Molecular Genetics and Genomics : Mgg, 2020

Association of Hypomorphic P2X7 Receptor Genotype With Age.

Sanz JM et al.

Frontiers in Molecular Neuroscience, 2020

Association of P2X7R gene with serum lipid profiles in Chinese postmenopausal women with osteoporosis.

Xiao W et al.

Climacteric : the Journal of the International Menopause Society, 2019

Role of the P2X7 receptor in in vitro and in vivo glioma tumor growth.

Bergamin LS et al.

Oncotarget, 2019

Association of purinergic receptor P2RX7 gene polymorphisms with depression symptoms.

Vereczkei A et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2019

Altered donor P2X7 activity in human leukocytes correlates with P2RX7 genotype but does not affect the development of graft-versus-host disease in humanised mice.

Adhikary SR et al.

Purinergic Signalling, 2019

Genetic variation of rs7958311 in P2X7R gene is associated with the susceptibility and disease activity of ankylosing spondylitis.

Pan Z et al.

Postgraduate Medical Journal, 2019

Bipolar disorder and 1513A>C P2RX7 polymorphism frequency.

Gubert C et al.

Neuroscience Letters, 2019

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

ATP in the tumour microenvironment drives expression of nfP2X7, a key mediator of cancer cell survival.

Gilbert SM et al.

Oncogene, 2019

A non-synonymous polymorphism in purinergic P2X7 receptor gene confers reduced susceptibility to essential hypertension in Chinese postmenopausal women.

Gong C et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2019

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

Kopp R et al.

Frontiers in Molecular Neuroscience, 2019

P2X7 polymorphisms and stem cell mobilisation.

Koldej R et al.

Leukemia, 2018

P2X7R mutation disrupts the NLRP3-mediated Th program and predicts poor cardiac allograft outcomes.

D'Addio F et al.

The Journal of Clinical Investigation, 2018

Genetic interaction of purinergic P2X7 receptor and ER-α polymorphisms in susceptibility to osteoporosis in Chinese postmenopausal women.

Wang H et al.

Journal of Bone and Mineral Metabolism, 2018

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

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to obesity in Chinese postmenopausal women.

Liu X et al.

Menopause (new York, N.y.), 2018

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to osteoporosis in Chinese postmenopausal women.

Xu H et al.

Purinergic Signalling, 2017

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 2017

Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.

Ying Y et al.

Rheumatology International, 2017

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

Yang YC et al.

Oncotarget, 2016

Genetic Association for P2X7R rs3751142 and CARD8 rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study.

Lee SW et al.

Journal of Korean Medical Science, 2016

Association Between P2RX7 Gene and Hepatocellular Carcinoma Susceptibility: A Case-Control Study in a Chinese Han Population.

Duan S et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2016

Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury.

Varley I et al.

Purinergic Signalling, 2016

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

Aprile-Garcia F et al.

Plos One, 2016

Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl.

Ide S et al.

Molecular Pain, 2014

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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."