Varaico: Literature-Extracted Genetic Variants

Gene:SQLE
Variant:p.A503V
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SQLE

NM_003129.4:p.A503V

Associated Papers

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

Nurhafizuddin M et al.

Molecules (basel, Switzerland), 2022

Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.

McCammon KM et al.

The Journal of Biological Chemistry, 2016

Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductase.

Agrawal V et al.

Pharmacogenetics and Genomics, 2010

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

Hart SN et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

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

Flück CE et al.

Fundamental & Clinical Pharmacology, 2007

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

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M et al.

The Journal of Clinical Endocrinology and Metabolism, 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."