Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.I370V
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DPYD

NM_000110.4:p.I370V

Associated Papers

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1

Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.

Sherman CA et al.

Scientific Reports, 2024

39354004 (PubMed )
Supplement: 41598_2024_73748_MOESM8_ESM.xlsx › Sheet1

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM1_ESM.xlsx › Sheet1

Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.

Ahn SH et al.

Genes, 2024

38674455 (PubMed )
Supplement: genes-15-00521-s001.zip › Supplementary_Table.xls › Table_S1

PAnno: A pharmacogenomics annotation tool for clinical genomic testing.

Liu Y et al.

Frontiers in Pharmacology, 2023

36778023 (PubMed )
Supplement: Table3.XLSX › GeT-RM_vs._PAnno

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_MOESM2_ESM.xlsx › Alleles

A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.

Pallet N et al.

British Journal of Cancer, 2020

32595208 (PubMed )
Supplement: 41416_2020_962_MOESM1_ESM.pdf

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

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients.

Del Re M et al.

The Epma Journal, 2015

Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.

Offer SM et al.

Cancer Research, 2014

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.

Rosmarin D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope?

Ciccolini J et al.

Clinical Colorectal Cancer, 2010

Dihydropyrimidine dehydrogenase polymorphisms and fluoropyrimidine toxicity: ready for routine clinical application within personalized medicine?

Del Re M et al.

The Epma Journal, 2010

Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant.

Lazar A et al.

Onkologie, 2004

Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy.

Lee A et al.

Clinical Advances in Hematology & Oncology : H&o, 2004

Denaturing high performance liquid chromatography analysis of the DPYD gene in patients with lethal 5-fluorouracil toxicity.

Ezzeldin H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2003

Clinical implications of dihydropyrimidine dehydrogenase (DPD) activity in 5-FU-based chemotherapy: mutations in the DPD gene, and DPD inhibitory fluoropyrimidines.

Omura K

International Journal of Clinical Oncology, 2003

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

van Kuilenburg AB et al.

The Biochemical Journal, 2002

Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.

van Kuilenburg AB et al.

Advances in Experimental Medicine and Biology, 2000

Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil.

Johnson MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 1999

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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."