Varaico: Literature-Extracted Genetic Variants

Gene:CYP24A1
Variant:p.R157Q
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CYP24A1

NM_000782.5:p.R157Q

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

41463395 (PubMed )
Supplement: biomolecules-15-01742-s001.zip › Supplementary_Materials_2.xlsx › Table_S5

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

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Cogal AG et al.

Kidney International Reports, 2021

High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.

Hanna C et al.

Kidney International Reports, 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

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

Gigante M et al.

Nephron, 2016

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

Molin A et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Genetic variants in the CYP24A1 gene are associated with prostate cancer risk and aggressiveness in a Korean study population.

Oh JJ et al.

Prostate Cancer and Prostatic Diseases, 2014

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

Jacobs ET et al.

Cancer Research, 2013

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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."