Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.Y64S
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CYP17A1

NM_000102.4:p.Y64S

Associated Papers

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

Wang M et al.

Clinical Hypertension, 2019

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.

Van Den Akker EL et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.

Biason-Lauber A et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

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."