Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.A326G
Back to variants list

CYP24A1

NM_000782.5:p.A326G

Associated Papers

Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.

Kaufmann M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

The Impact of CYP24A1 Polymorphisms on Hypertension Susceptibility.

Bao Q et al.

Kidney & Blood Pressure Research, 2020

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

Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

Schlingmann KP et al.

The New England Journal of Medicine, 2011

Single A326G mutation converts human CYP24A1 from 25-OH-D3-24-hydroxylase into -23-hydroxylase, generating 1alpha,25-(OH)2D3-26,23-lactone.

Prosser DE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."