Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.M374T
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CYP24A1

NM_000782.5:p.M374T

Associated Papers

Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.

Jarrar Y et al.

Journal of Personalized Medicine, 2025

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.

Cappellani D et al.

European Journal of Endocrinology, 2021

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.

De Paolis E et al.

Clinical Chemistry and Laboratory Medicine, 2019

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.

Sun Y et al.

Fetal and Pediatric Pathology, 2019

Ancestry-Adjusted Vitamin D Metabolite Concentrations in Association With Cytochrome P450 3A Polymorphisms.

Wilson RT et al.

American Journal of Epidemiology, 2018

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

Gigante M et al.

Nephron, 2016

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

Figueres ML et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015

Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.

Jobst-Schwan T et al.

Kidney & Blood Pressure Research, 2015

CYP24A1 and CYP27B1 polymorphisms modulate vitamin D metabolism in colon cancer cells.

Jacobs ET et al.

Cancer Research, 2013

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Nesterova G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.

Wang LL et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009

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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."