Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.G539R
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DPYD

NM_000110.4:p.G539R

Associated Papers

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

Chan TH et al.

British Journal of Cancer, 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

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

Larrue R et al.

The Pharmacogenomics Journal, 2024

Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of DPYD Exon Sequencing and the Role of Phenotyping Assays.

De Luca O et al.

International Journal of Molecular Sciences, 2022

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

Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Silgado-Guzmán DF et al.

Frontiers in Pharmacology, 2022

35846994 (PubMed )
Supplement: Table3.xlsx › Hoja1

A Japanese Patient with Gastric Cancer and Dihydropyrimidine Dehydrogenase Deficiency Presenting with DPYD Variants.

Ishiguro M et al.

Acta Medica Okayama, 2020

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

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Chang X et al.

Frontiers in Genetics, 2018

30323833 (PubMed )
Supplement: Table_1.xlsx › Sheet1

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

Offer SM et al.

Cancer Research, 2014

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B et al.

Nature Genetics, 2012

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

Xu B et al.

Nature Genetics, 2011

[Genetic polymorphisms related to fluoropyrimidine sensitivity and toxicity].

Terashima M

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2008

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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."