Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.V391L
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CYP24A1

NM_000782.5:p.V391L

Associated Papers

CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.

Hawkes CP et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D.

Jones G et al.

Archives of Biochemistry and Biophysics, 2012

Bioengineering anabolic vitamin D-25-hydroxylase activity into the human vitamin D catabolic enzyme, cytochrome P450 CYP24A1, by a V391L mutation.

Kaufmann M et al.

The Journal of Biological Chemistry, 2011

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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."