Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.R465*
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DPYS

NM_001385.3:p.R465*

Associated Papers

[Characterization of Genetic Polymorphisms Related to 5-FU Metabolizing Enzymes in Japanese Populations].

Hishinuma E

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2026

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Juvenile Parkinsonism Associated With Dihydropyrimidinase Deficiency.

Li J et al.

Pediatrics, 2024

Common dihydropyrimidinase ( DPYS ) genetic variations do not predict fluoropyrimidine-related chemotherapy toxicity in a Canadian cohort.

Medwid SJ et al.

Pharmacogenetics and Genomics, 2024

Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity.

Hishinuma E et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2023

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.

Yokoi K et al.

Cancer Science, 2020

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Nakajima Y et al.

Molecular Genetics and Metabolism, 2017

Functional characterization of 21 allelic variants of dihydropyrimidinase.

Hishinuma E et al.

Biochemical Pharmacology, 2017

Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity.

Hiratsuka M et al.

Plos One, 2015

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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."