Varaico: Literature-Extracted Genetic Variants

Gene:PTGIR
Variant:p.R279C
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PTGIR

NM_000960.4:p.R279C

Associated Papers

A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling.

Wright FA et al.

The Journal of Biological Chemistry, 2015

High throughput mutagenesis for identification of residues regulating human prostacyclin (hIP) receptor expression and function.

Bill A et al.

Plos One, 2014

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

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

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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."