Varaico: Literature-Extracted Genetic Variants

Gene:CYP3A4
Variant:p.R130Q
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CYP3A4

NM_017460.6:p.R130Q

Associated Papers

Decoding Allosteric Effects of Missense Variations in Drug Metabolism: Afrocentric CYP3A4 Alleles Explored.

Mwaniki RM et al.

Journal of Molecular Biology, 2025

Impaired Drug Metabolism Caused by Compound Heterozygous Loss-of-Function Variants in CYP3A4: A Case Report.

Kang HB et al.

Clinical Pharmacology and Therapeutics, 2025

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf

In-silico screening and analysis of missense SNPs in human CYP3A4/5 affecting drug-enzyme interactions of FDA-approved COVID-19 antiviral drugs.

Abdelazim AA et al.

Scientific Reports, 2025

Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project.

Gaedigk A et al.

The Journal of Molecular Diagnostics : Jmd, 2023

The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data.

Zhou Y et al.

The Pharmacogenomics Journal, 2022

Metabolism of the antipsychotic drug olanzapine by CYP3A43.

Zhao J et al.

Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2022

35582917 (PubMed )
Supplement: supplement_1.pdf

Effects of 27 CYP3A4 protein variants on saxagliptin metabolism in vitro.

Liu Q et al.

Fundamental & Clinical Pharmacology, 2022

Why We Need to Take a Closer Look at Genetic Contributions to CYP3A Activity.

Zhai Q et al.

Frontiers in Pharmacology, 2022

Frequency of Important CYP450 Enzyme Gene Polymorphisms in the Iranian Population in Comparison with Other Major Populations: A Comprehensive Review of the Human Data.

Neyshaburinezhad N et al.

Journal of Personalized Medicine, 2021

34442448 (PubMed )
Supplement: jpm-11-00804-s001.zip › jpm-1270394-supplementary.pdf

Metabolism of Long-Acting Rilpivirine After Intramuscular Injection: HIV Prevention Trials Network Study 076 (HPTN 076).

Seneviratne HK et al.

Aids Research and Human Retroviruses, 2021

Functional Characterization of 40 CYP3A4 Variants by Assessing Midazolam 1'-Hydroxylation and Testosterone 6β-Hydroxylation.

Kumondai M et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2021

Crystal Structures of Drug-Metabolizing CYPs.

Estrada DF et al.

Methods in Molecular Biology (clifton, N.j.), 2021

Effects of 26 Recombinant CYP3A4 Variants on Brexpiprazole Metabolism.

Chen B et al.

Chemical Research in Toxicology, 2020

Identification of genetic variants associated with tacrolimus metabolism in kidney transplant recipients by extreme phenotype sampling and next generation sequencing.

Dorr CR et al.

The Pharmacogenomics Journal, 2019

30442921 (PubMed )
Supplement: NIHMS1508276-supplement-1.pdf

Polymorphism in Cytochrome P450 3A4 Is Ethnicity Related.

Guttman Y et al.

Frontiers in Genetics, 2019

30941162 (PubMed )
Supplement: Table_2.xlsx › FrontiersAfrican

Enzymatic Activities of CYP3A4 Allelic Variants on Quinine 3-Hydroxylation In Vitro.

Zhou XY et al.

Frontiers in Pharmacology, 2019

Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.

Apellániz-Ruiz M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Cytochrome allelic variants and clopidogrel metabolism in cardiovascular diseases therapy.

Jarrar M et al.

Molecular Biology Reports, 2016

Whole-exome sequencing reveals defective CYP3A4 variants predictive of paclitaxel dose-limiting neuropathy.

Apellániz-Ruiz M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Functional gene variants of CYP3A4.

Werk AN et al.

Clinical Pharmacology and Therapeutics, 2014

The Making of a CYP3A Biomarker Panel for Guiding Drug Therapy.

Wang D et al.

Journal of Personalized Medicine, 2012

Polymorphic metabolism by functional alterations of human cytochrome P450 enzymes.

Lee IS et al.

Archives of Pharmacal Research, 2011

Evaluation of the effects of cytochrome P450 nonsynonymous single-nucleotide polymorphisms on tanshinol borneol ester metabolism and inhibition potential.

Liu D et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2010

Pharmacogenomics of CYP3A: considerations for HIV treatment.

Lakhman SS et al.

Pharmacogenomics, 2009

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

The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population.

Liou YH et al.

Journal of Human Genetics, 2006

CYP3A4 polymorphisms--potential risk factors for breast and prostate cancer: a HuGE review.

Keshava C et al.

American Journal of Epidemiology, 2004

Human drug metabolising cytochrome P450 enzymes: properties and polymorphisms.

Ingelman-Sundberg M

Naunyn-schmiedeberg's Archives of Pharmacology, 2004

Common allelic variants of cytochrome P4503A4 and their prevalence in different populations.

Lamba JK et al.

Pharmacogenetics, 2002

Identification and functional characterization of eight CYP3A4 protein variants.

Eiselt R et al.

Pharmacogenetics, 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."