Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.K89N
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CYP17A1

NM_000102.4:p.K89N

Associated Papers

Catalytically relevant electrostatic interactions of cytochrome P450c17 (CYP17A1) and cytochrome b5.

Peng HM et al.

The Journal of Biological Chemistry, 2014

Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.

Auchus RJ et al.

Endocrine Research, 2002

Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.

Gupta MK et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

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."