Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.V427A
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DPYD

NM_000110.4:p.V427A

Associated Papers

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

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.

Dihydropyrimidine dehydrogenase deficiency in patients with severe toxicity after 5-fluorouracil: a retrospective single-center study.

Detailleur S et al.

Annals of Gastroenterology, 2021

In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Dihydropyrimidine dehydrogenase in the metabolism of the anticancer drugs.

Sharma V et al.

Cancer Chemotherapy and Pharmacology, 2019

Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.

Shrestha S et al.

Clinical Pharmacology and Therapeutics, 2018

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

van Kuilenburg AB et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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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."