Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.E305Q
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CYP17A1

NM_000102.4:p.E305Q

Associated Papers

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

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

Sherbet DP et al.

The Journal of Biological Chemistry, 2003

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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."