Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.V76A
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P2RX7

NM_002562.6:p.V76A

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

P2X7 Variants in Pathophysiology.

Pegoraro A et al.

International Journal of Molecular Sciences, 2024

Genetic polymorphisms linked to extreme postorthodontic external apical root resorption in Koreans.

Liu J et al.

Progress in Orthodontics, 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

38664691 (PubMed )
Supplement: 12935_2024_3339_MOESM2_ESM.pdf

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

Zorina-Lichtenwalter K et al.

The Journal of Pain, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

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

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

Koldej RM et al.

International Journal of Molecular Sciences, 2020

P2X7 polymorphisms and stem cell mobilisation.

Koldej R et al.

Leukemia, 2018

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 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

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

Gu BJ et al.

Human Molecular Genetics, 2015

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

Ide S et al.

Molecular Pain, 2014

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

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

Lester S et al.

Arthritis Research & Therapy, 2013

Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.

Wesselius A et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2013

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

Functional polymorphisms in the P2X7 receptor gene are associated with osteoporosis.

Husted LB et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2013

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

Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.

Jørgensen NR et al.

European Journal of Human Genetics : Ejhg, 2012

A common missense variant in the ATP receptor P2X7 is associated with reduced risk of cardiovascular events.

Gidlöf O et al.

Plos One, 2012

Role of purinergic receptor polymorphisms in human bone.

Wesselius A et al.

Frontiers in Bioscience (landmark Edition), 2011

Functional significance of P2RX7 polymorphisms associated with affective mood disorders.

Sluyter R et al.

Journal of Psychiatric Research, 2010

Single nucleotide polymorphisms that were identified in affective mood disorders affect ATP-activated P2X7 receptor functions.

Roger S et al.

Journal of Psychiatric Research, 2010

Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders.

Erhardt A et al.

Journal of Affective Disorders, 2007

P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.

Lucae S et al.

Human Molecular Genetics, 2006

Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.

Barden N et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

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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."