Varaico: Literature-Extracted Genetic Variants

Gene:CYP51A1
Variant:p.K97N
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CYP51A1

NM_000786.4:p.K97N

Associated Papers

Cytochromes p450: roles in diseases.

Pikuleva IA et al.

The Journal of Biological Chemistry, 2013

Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.

Zhao B et al.

The Journal of Biological Chemistry, 2012

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Robins T et al.

Molecular Endocrinology (baltimore, Md.), 2006

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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."