Varaico: Literature-Extracted Genetic Variants

Gene:PTGIR
Variant:p.R212H
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PTGIR

NM_000960.4:p.R212H

Associated Papers

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

Georges A et al.

Cardiovascular Research, 2021

32531060 (PubMed )
Supplement: cvaa161_supplementary_data.docx

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

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

New insights into human prostacyclin receptor structure and function through natural and synthetic mutations of transmembrane charged residues.

Stitham J et al.

British Journal of Pharmacology, 2007

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

Stitham J et al.

Gene, 2007

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

The unique ligand-binding pocket for the human prostacyclin receptor. Site-directed mutagenesis and molecular modeling.

Stitham J et al.

The Journal of Biological Chemistry, 2003

Impaired receptor binding and activation associated with a human prostacyclin receptor polymorphism.

Stitham J et al.

The Journal of Biological Chemistry, 2002

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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."