Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.M263V
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POR

NM_001395413.1:p.M263V

Associated Papers

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.

Nurhafizuddin M et al.

Molecules (basel, Switzerland), 2022

Polymorphisms in cytochrome P450 oxidoreductase and its effect on drug metabolism and efficacy.

Gong L et al.

Pharmacogenetics and Genomics, 2017

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

Pharmacogenomics of human P450 oxidoreductase.

Pandey AV et al.

Frontiers in Pharmacology, 2014

Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.

Moutinho D et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012

Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.

Tomková M et al.

Pharmacogenomics, 2012

Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency.

Flück CE et al.

Biochemical and Biophysical Research Communications, 2011

Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization.

Marohnic CC et al.

Archives of Biochemistry and Biophysics, 2011

Clinical and biochemical consequences of p450 oxidoreductase deficiency.

Flück CE et al.

Endocrine Development, 2011

Genetic variation in human P450 oxidoreductase.

Miller WL et al.

Molecular and Cellular Endocrinology, 2009

Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.

Agrawal V et al.

Pharmacogenetics and Genomics, 2008

P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity.

Hart SN et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

Genetic polymorphisms in cytochrome P450 oxidoreductase influence microsomal P450-catalyzed drug metabolism.

Hart SN et al.

Pharmacogenetics and Genomics, 2008

Genetic and clinical features of p450 oxidoreductase deficiency.

Scott RR et al.

Hormone Research, 2008

P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.

Flück CE et al.

Endocrine Development, 2008

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.

Flück CE et al.

Fundamental & Clinical Pharmacology, 2007

Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase.

Marohnic CC et al.

The Journal of Biological Chemistry, 2006

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N et al.

American Journal of Human Genetics, 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."