Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.Y181D
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HSD17B6

NM_003725.4:p.Y181D

Associated Papers

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

Nurhafizuddin M et al.

Molecules (basel, Switzerland), 2022

In vitro fertilization-frozen embryo transfer in a patient with cytochrome P450 oxidoreductase deficiency: a case report.

Song T et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018

Impact on CYP19A1 activity by mutations in NADPH cytochrome P450 oxidoreductase.

Flück CE et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

Parween S et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Influence of various polymorphic variants of cytochrome P450 oxidoreductase (POR) on drug metabolic activity of CYP3A4 and CYP2B6.

Chen X et al.

Plos One, 2012

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

Marohnic CC et al.

Archives of Biochemistry and Biophysics, 2011

Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency.

Xia C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism.

Flück CE et al.

Biochemical and Biophysical Research Communications, 2010

Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase.

Pandey AV et al.

Biochemical and Biophysical Research Communications, 2010

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

Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.

Dhir V et al.

Molecular Endocrinology (baltimore, Md.), 2007

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

Flück CE et al.

Fundamental & Clinical Pharmacology, 2007

Genetic variation of human cytochrome p450 reductase as a potential biomarker for mitomycin C-induced cytotoxicity.

Wang SL et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2007

Effect of genetic variation on human cytochrome p450 reductase-mediated paraquat cytotoxicity.

Han JF et al.

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

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.

Pandey AV et al.

Endocrine Research, 2004

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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."