Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.R235Q
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DPYD

NM_000110.4:p.R235Q

Associated Papers

DPYD genetic polymorphisms in non-European patients with severe fluoropyrimidine-related toxicity: a systematic review.

Chan TH et al.

British Journal of Cancer, 2024

Clinical Implementation of Rare and Novel DPYD Variants for Personalizing Fluoropyrimidine Treatment: Challenges and Opportunities.

De Mattia E et al.

International Journal of Biological Sciences, 2024

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Goljan E et al.

Plos One, 2022

35089958 (PubMed )
Supplement: pone.0263137.s002.xlsx › Sheet1

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

Severe Capecitabine Toxicity Associated With a Rare DPYD Variant Identified Through Whole-Genome Sequencing.

Ly RC et al.

Jco Precision Oncology, 2020

Preliminary Evidence for Enhanced Thymine Absorption: A Putative New Phenotype Associated With Fluoropyrimidine Toxicity in Cancer Patients.

Duley JA et al.

Therapeutic Drug Monitoring, 2018

A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.

Weidensee S et al.

Clinical Biochemistry, 2011

[Genetic polymorphisms related to fluoropyrimidine sensitivity and toxicity].

Terashima M

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2008

Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

van Kuilenburg AB et al.

Nucleosides, Nucleotides & Nucleic Acids, 2008

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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."