Varaico: Literature-Extracted Genetic Variants

Gene:CYP2D6
Variant:p.R259fs
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CYP2D6

NM_000106.6:p.R259fs

Associated Papers

Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.

Litonius K et al.

Clinical Pharmacology and Therapeutics, 2025

39365028 (PubMed )
Supplement: CPT-117-278-s001.pdf

Phenotype-Genotype Correlation Applying a Cocktail Approach and an Exome Chip Analysis Reveals Further Variants Contributing to Variation of Drug Metabolism.

Böhm R et al.

Clinical Pharmacology and Therapeutics, 2024

Targeted haplotyping in pharmacogenomics using Oxford Nanopore Technologies' adaptive sampling.

Deserranno K et al.

Frontiers in Pharmacology, 2023

38026945 (PubMed )
Supplement: DataSheet1.ZIP › SupplementaryMaterials › SupplementaryMaterials_Tables_S4-S9.xlsx › HG001_R10.4.1_AldyCalls

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver

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

PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.

Charnaud S et al.

Communications Biology, 2022

35217695 (PubMed )
Supplement: 42003_2022_3102_MOESM4_ESM.xlsx › SD5

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Grunseich C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

34103343 (PubMed )
Supplement: jnnp-2020-325437supp002.pdf

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Drug_response

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Hočevar K et al.

Frontiers in Pharmacology, 2019

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

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
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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."