Varaico: Literature-Extracted Genetic Variants

Gene:CYP51A1
Variant:p.T142A
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CYP51A1

NM_000786.4:p.T142A

Associated Papers

Altered CYP19A1 and CYP3A4 Activities Due to Mutations A115V, T142A, Q153R and P284L in the Human P450 Oxidoreductase.

Udhane SS et al.

Frontiers in Pharmacology, 2017

Pharmacogenomics of human P450 oxidoreductase.

Pandey AV et al.

Frontiers in Pharmacology, 2014

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

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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

Restoration of mutant cytochrome P450 reductase activity by external flavin.

Nicolo C et al.

Molecular and Cellular Endocrinology, 2010

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

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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."