Varaico: Literature-Extracted Genetic Variants

Gene:P2RY2
Variant:p.R334C
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P2RY2

NM_002564.4:p.R334C

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Park J et al.

Cell Reports. Medicine, 2022

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A049-01A.domain

Association of P2Y(2) receptor SNPs with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.

Wesselius A et al.

Purinergic Signalling, 2013

P2Y2 receptor polymorphisms and haplotypes in cystic fibrosis and their impact on Ca2+ influx.

Büscher R et al.

Pharmacogenetics and Genomics, 2006

Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.

Tang CM et al.

Expert Opinion on Therapeutic Targets, 2005

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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."