Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.I543V
Back to variants list

DPYD

NM_000110.4:p.I543V

Associated Papers

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.

Lin HH et al.

Molecular Genetics & Genomic Medicine, 2026

41559003 (PubMed )
Supplement: MGG3-14-e70201-s001.xlsx › Table_S3.

Potential clinical relevance of rare dihydropyrimidine dehydrogenase genetic variants identified using whole-exome NextGen sequencing in cancer patients with severe fluoropyrimidine toxicity.

Cui E et al.

Cancer Chemotherapy and Pharmacology, 2025

Association between miRNA expression profiles and polymorphisms of dihydropyrimidine dehydrogenase drug-metabolizing gene in patients with colorectal cancer receiving 5-fluorouracil.

Phannasil P et al.

Biomedical Reports, 2025

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Implementing Pre-Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects.

Bernsen EC et al.

Clinical Pharmacology and Therapeutics, 2025

40331624 (PubMed )
Supplement: CPT-118-438-s003.xlsx › no_results_phenotypes_manuscrip

DPYD Genotyping, Fluoropyrimidine Dosage and Toxicity: An Umbrella Review of Systematic Reviews.

Otero-Torres S et al.

Pharmaceuticals (basel, Switzerland), 2025

Application of dihydropyrimidine dehydrogenase deficiency testing for the prevention of fluoropyrimidine toxicity: a real-world experience in a Southern Italy cancer center.

Bianchino G et al.

Journal of Chemotherapy (florence, Italy), 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Dihydropyrimidine enzyme activity and its effect on chemotherapy toxicity: importance of genetic testing.

Shamaei Zadeh A et al.

Cancer Chemotherapy and Pharmacology, 2025

Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node.

Xia Y et al.

Frontiers in Immunology, 2025

Comprehensive pharmacogenomics profiling of the Serbian population.

Jelovac M et al.

Frontiers in Pharmacology, 2025

40166472 (PubMed )
Supplement: DataSheet1.xlsx › 3._WES

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

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table1.xlsx › Sheet1

Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.

Wang W et al.

Frontiers in Oncology, 2025

Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.

Piriyapongsa J et al.

Scientific Reports, 2024

Influence of DPYD gene polymorphisms on 5-Fluorouracil toxicities in Thai colorectal cancer patients.

Atasilp C et al.

Cancer Chemotherapy and Pharmacology, 2024

Pharmacogenetic DPYD allele variant frequencies: A comprehensive analysis across an ancestrally diverse Iranian population.

Sarhangi N et al.

Daru : Journal of Faculty of Pharmacy, Tehran University of Medical Sciences, 2024

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

DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.

Gaedigk A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD.

Knikman JE et al.

Genome Medicine, 2024

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

Chan TH et al.

British Journal of Cancer, 2024

Novel Genetic Variants Explaining Severe Adverse Drug Events after Clinical Implementation of DPYD Genotype-Guided Therapy with Fluoropyrimidines: An Observational Study.

Díaz-Villamarín X et al.

Pharmaceutics, 2024

Approach for Phased Sequence-Based Genotyping of the Critical Pharmacogene Dihydropyrimidine Dehydrogenase (DPYD).

Ambrodji A et al.

International Journal of Molecular Sciences, 2024

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

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.

Larrue R et al.

The Pharmacogenomics Journal, 2024

Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing.

Turner AJ et al.

Clinical and Translational Science, 2024

38129972 (PubMed )
Supplement: CTS-17-e13699-s001.xlsx › SNPs_genotyped_on_pScan

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review.

Song H et al.

Frontiers in Oncology, 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

Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.

Rajeh A et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2

Discrepancies between dihydropyrimidine dehydrogenase phenotyping and genotyping: What are the explanatory factors?

Arrivé C et al.

British Journal of Clinical Pharmacology, 2023

A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.

Nunez-Torres R et al.

Pharmaceutics, 2023

1–50 of 229 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."