Varaico: Literature-Extracted Genetic Variants

Gene:NR1I2
Variant:p.R98C
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NR1I2

NM_003889.4:p.R98C

Associated Papers

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

CRISPR-Cas9-Mutated Pregnane X Receptor (pxr) Retains Pregnenolone-induced Expression of cyp3a65 in Zebrafish (Danio rerio) Larvae.

Salanga MC et al.

Toxicological Sciences : an Official Journal of the Society of Toxicology, 2020

A comprehensive analysis and functional characterization of naturally occurring non-synonymous variants of nuclear receptor PXR.

Rana M et al.

Biochimica Et Biophysica Acta, 2016

Role of pregnane X receptor in chemotherapeutic treatment.

Zhuo W et al.

Cancer Chemotherapy and Pharmacology, 2014

Genetic variability of PXR in Saudi Arabians.

Al-Dosari MS et al.

Biochemical Genetics, 2013

Sequencing and functional assessment of hPXR (NR1I2) variants in intrahepatic cholestasis of pregnancy.

Owen BM et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2008

Polymorphisms of human nuclear receptors that control expression of drug-metabolizing enzymes.

Okey AB et al.

Pharmacogenetics and Genomics, 2005

Functional characterization of a novel polymorphism of pregnane X receptor, Q158K, in Chinese subjects.

Lim YP et al.

Pharmacogenetics and Genomics, 2005

Functional characterization of four naturally occurring variants of human pregnane X receptor (PXR): one variant causes dramatic loss of both DNA binding activity and the transactivation of the CYP3A4 promoter/enhancer region.

Koyano S et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2004

Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations.

Koyano S et al.

Drug Metabolism and Pharmacokinetics, 2002

Hepatic OATP1B transporters and nuclear receptors PXR and CAR: interplay, regulation of drug disposition genes, and single nucleotide polymorphisms.

Meyer zu Schwabedissen HE et al.

Molecular Pharmaceutics, 0

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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."