Varaico: Literature-Extracted Genetic Variants

Gene:CYP3A4
Variant:p.I301F
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CYP3A4

NM_017460.6:p.I301F

Associated Papers

Distinct and potent vitamin D hydroxylation activity acquired by the CYP3A4 I301T single amino acid substitution causes type 3 rickets.

Nakaya N et al.

The Febs Journal, 2025

Role of cytochrome B5 in modulating peroxide-supported cyp3a4 activity: evidence for a conformational transition and cytochrome P450 heterogeneity.

Kumar S et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2005

CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis.

Gupta RP et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Phenylalanine and tryptophan scanning mutagenesis of CYP3A4 substrate recognition site residues and effect on substrate oxidation and cooperativity.

Domanski TL et al.

Biochemistry, 2001

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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."