Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.C566Y
Back to variants list

POR

NM_001395413.1:p.C566Y

Associated Papers

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.

Gusmano C et al.

Journal of Endocrinological Investigation, 2023

Generation of iPSC lines from two (BGUi002-A and BGUi003-A) homozygous p450 oxidoreductase-deficient patients and from one (BGUi001-A) heterozygous healthy family relative.

Zlotnik D et al.

Stem Cell Research, 2020

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

Biochemical analysis of mutations in P450 oxidoreductase.

Pandey AV

Biochemical Society Transactions, 2006

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

Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.

Shackleton C et al.

American Journal of Medical Genetics. Part A, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."