Varaico: Literature-Extracted Genetic Variants

Gene:DPYS
Variant:p.R490H
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DPYS

NM_001385.3:p.R490H

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

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

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

Chen Y et al.

Frontiers in Medicine, 2022

36111109 (PubMed )
Supplement: Table_3.XLSX › rare_varaints

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

Yokoi K et al.

Cancer Science, 2020

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Forstner AJ et al.

Translational Psychiatry, 2020

32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.

Tsuchiya H et al.

Brain & Development, 2019

Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.

Zhang W et al.

Cancer Medicine, 2019

30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11

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

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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."