Varaico: Literature-Extracted Genetic Variants

Gene:PTGIR
Variant:p.R212C
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PTGIR

NM_000960.4:p.R212C

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.

Georges A et al.

Cardiovascular Research, 2021

Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.

Janicki PK et al.

International Journal of Molecular Sciences, 2017

Variants of G protein-coupled receptors: a reappraisal of their role in receptor regulation.

Maggio R et al.

Biochemical Society Transactions, 2016

Identification of a novel endoplasmic reticulum export motif within the eighth α-helical domain (α-H8) of the human prostacyclin receptor.

Donnellan PD et al.

Biochimica Et Biophysica Acta, 2011

Comprehensive biochemical analysis of rare prostacyclin receptor variants: study of association of signaling with coronary artery obstruction.

Stitham J et al.

The Journal of Biological Chemistry, 2011

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys

Dominant negative actions of human prostacyclin receptor variant through dimerization: implications for cardiovascular disease.

Ibrahim S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2010

Differential association between human prostacyclin receptor polymorphisms and the development of venous thrombosis and intimal hyperplasia: a clinical biomarker study.

Patrignani P et al.

Pharmacogenetics and Genomics, 2008

Acceleration of cardiovascular disease by a dysfunctional prostacyclin receptor mutation: potential implications for cyclooxygenase-2 inhibition.

Arehart E et al.

Circulation Research, 2008

Arginine (CGC) codon targeting in the human prostacyclin receptor gene (PTGIR) and G-protein coupled receptors (GPCR).

Stitham J et al.

Gene, 2007

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."