Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.T306A
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CYP17A1

NM_000102.4:p.T306A

Associated Papers

An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.

Hou Z et al.

Journal of Assisted Reproduction and Genetics, 2025

P450 CYP17A1 Variant with a Disordered Proton Shuttle Assembly Retains Peroxo-Mediated Lyase Efficiency.

Liu Y et al.

Chemistry (weinheim an Der Bergstrasse, Germany), 2020

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.

Wang M et al.

Clinical Hypertension, 2019

Cytochrome b5 Activates the 17,20-Lyase Activity of Human Cytochrome P450 17A1 by Increasing the Coupling of NADPH Consumption to Androgen Production.

Peng HM et al.

Biochemistry, 2016

New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.

Xiao H et al.

Genetics and Molecular Research : Gmr, 2015

Active site proton delivery and the lyase activity of human CYP17A1.

Khatri Y et al.

Biochemical and Biophysical Research Communications, 2014

CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.

Sherbet DP et al.

The Journal of Biological Chemistry, 2003

Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

Auchus RJ et al.

Molecular Endocrinology (baltimore, Md.), 1999

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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."