Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.L46_L47insFs
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CYP2D6

NM_000106.6:p.L46_L47insFs

Associated Papers

The variation landscape of CYP2D6 in a multi-ethnic Asian population.

Maulana Y et al.

Scientific Reports, 2024

A New Cloud-Native Tool for Pharmacogenetic Analysis.

Yuan DY et al.

Genes, 2024

38540411 (PubMed )
Supplement: genes-15-00352-s001.zip › Pgxtools__a_new_cloud-native_tool_for_Pharmacogenetic_analysis-Supplemental-1-revised.pdf

PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.

Turner AJ et al.

Clinical Pharmacology and Therapeutics, 2023

Pharmacokinetics of Tamoxifen and Its Major Metabolites and the Effect of the African Ancestry Specific CYP2D6*17 Variant on the Formation of the Active Metabolite, Endoxifen.

Kanji CR et al.

Journal of Personalized Medicine, 2023

36836506 (PubMed )
Supplement: jpm-13-00272-s001.zip › jpm-2113778-supplementary.pdf

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

36068297 (PubMed )
Supplement: 41397_2022_288_MOESM4_ESM.xlsx › Sheet1

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).

Matic M et al.

European Journal of Human Genetics : Ejhg, 2022

CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study.

Chan ER et al.

Pharmacogenomics, 2022

35230160 (PubMed )
Supplement: pgs-23-315-s1.xlsx › Sheet1

Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes.

Hongkaew Y et al.

Pharmacogenomics, 2021

Relationship between CYP2D6 genotype, activity score and phenotype in a pediatric Thai population treated with risperidone.

Hongkaew Y et al.

Scientific Reports, 2021

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Scott SA et al.

Clinical and Translational Science, 2021

32931151 (PubMed )
Supplement: CTS-14-204-s001.xlsx › Table_S1

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

CYP2D6 Predicts Plasma Donepezil Concentrations in a Cohort of Thai Patients with Mild to Moderate Dementia.

Chamnanphon M et al.

Pharmacogenomics and Personalized Medicine, 2020

CYP2D6 genotype can help to predict effectiveness and safety during opioid treatment for chronic low back pain: results from a retrospective study in an Italian cohort.

Dagostino C et al.

Pharmacogenomics and Personalized Medicine, 2018

Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing.

Yang Y et al.

Pharmacogenomics, 2017

Validation of an Extensive CYP2D6 Assay Panel Based on Invader and TaqMan Copy Number Assays.

Leung EKY et al.

The Journal of Applied Laboratory Medicine, 2017

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Ng D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27537706 (PubMed )
Supplement: NIHMS802548-supplement-Table_S4.pdf

Pharmacogenetic testing revisited: 5' nuclease real-time polymerase chain reaction test panels for genotyping CYP2D6 and CYP2C19.

Larsen JB et al.

Pharmacogenomics and Personalized Medicine, 2017

Sequencing CYP2D6 for the detection of poor-metabolizers in post-mortem blood samples with tramadol.

Fonseca S et al.

Forensic Science International, 2016

Detection of CYP2D6 polymorphism using Luminex xTAG technology in autism spectrum disorder: CYP2D6 activity score and its association with risperidone levels.

Vanwong N et al.

Drug Metabolism and Pharmacokinetics, 2016

Genotype and co-medication dependent CYP2D6 metabolic activity: effects on serum concentrations of aripiprazole, haloperidol, risperidone, paliperidone and zuclopenthixol.

Lisbeth P et al.

European Journal of Clinical Pharmacology, 2016

The Effect of Tamoxifen Dose Increment in Patients With Impaired CYP2D6 Activity.

Welzen ME et al.

Therapeutic Drug Monitoring, 2015

Establishment of CYP2D6 reference samples by multiple validated genotyping platforms.

Fang H et al.

The Pharmacogenomics Journal, 2014

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Pharmacogenetic workup of perioperative serotonin syndrome.

Beatty NC et al.

Journal of Clinical Anesthesia, 2013

Cytochrome P450 2D6 polymorphisms and predicted opioid metabolism in African American children with sickle cell disease.

Yee MM et al.

Journal of Pediatric Hematology/oncology, 2013

Length of psychiatric hospitalization is correlated with CYP2D6 functional status in inpatients with major depressive disorder.

Ruaño G et al.

Biomarkers in Medicine, 2013

Importance of pharmacogenetics in the treatment of children with attention deficit hyperactive disorder: a case report.

Tan-Kam T et al.

Pharmacogenomics and Personalized Medicine, 2013

Endoxifen levels and its association with CYP2D6 genotype and phenotype: evaluation of a southern Brazilian population under tamoxifen pharmacotherapy.

Antunes MV et al.

Therapeutic Drug Monitoring, 2012

Frequency of undetected CYP2D6 hybrid genes in clinical samples: impact on phenotype prediction.

Black JL et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012

Should CYP2D6 inhibitors be administered in conjunction with tamoxifen?

Zembutsu H et al.

Expert Review of Anticancer Therapy, 2011

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2010

CYP2D7-2D6 hybrid tandems: identification of novel CYP2D6 duplication arrangements and implications for phenotype prediction.

Gaedigk A et al.

Pharmacogenomics, 2010

Naturalistic pharmacogenetic study of treatment resistance to typical neuroleptics in European-Brazilian schizophrenics.

Kohlrausch FB et al.

Pharmacogenetics and Genomics, 2008

CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein?

Gaedigk A et al.

Biochemical and Biophysical Research Communications, 2005

CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-time PCR.

Schaeffeler E et al.

Human Mutation, 2003

Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood.

Levo A et al.

Forensic Science International, 2003

Characterization of cytochrome P450 2D6 alleles using the Invader system.

Nevilie M et al.

Biotechniques, 2002

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