Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.K152N
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CYP11B2

NM_000498.3:p.K152N

Associated Papers

Structure of human cortisol-producing cytochrome P450 11B1 bound to the breast cancer drug fadrozole provides insights for drug design.

Brixius-Anderko S et al.

The Journal of Biological Chemistry, 2019

Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function.

Holloway CD et al.

Clinical Endocrinology, 2009

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

Løvås K et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family.

Peters CJ et al.

Hormone Research, 2007

Inhibition of aldosterone biosynthesis by staurosporine.

Bureik M et al.

Biological Chemistry, 2005

[11beta-hydroxylase deficiency].

Mello MP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2004

Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).

Ezquieta B et al.

Clinical Genetics, 2004

The effect of amino-acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme.

Bechtel S et al.

European Journal of Biochemistry, 2002

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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."