Varaico: Literature-Extracted Genetic Variants

Gene:NUDT15
Variant:p.R139H
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NUDT15

NM_018283.4:p.R139H

Associated Papers

Pharmacogenetic Analysis of TPMT and NUDT15 in a European Pediatric Cohort with IBD and Autoimmune Diseases: Frequency Data and Clinical Relevance.

Pau A et al.

Genes, 2025

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s010.xlsx › Supplemental_Table_13_-_Pharmac

Japanese medicinal drug labeling for use in the clinical setting as informed by pharmacogenomic data on cytochrome P450 enzymes obtained from in silico studies.

Tanaka Y et al.

Drug Metabolism and Pharmacokinetics, 2025

NUDT15 Pharmacogenetics in Acute Lymphoblastic Leukemia: Synthesizing Progress for Personalized Thiopurine Therapy.

Lubis IS et al.

Medical Sciences (basel, Switzerland), 2025

Clinical Actionability of the NUDT15 *4 (p.R139H) Allele and Its Association With Hispanic Ethnicity.

Maillard M et al.

Clinical Pharmacology and Therapeutics, 2025

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: mmc6.xlsx › Sheet1

Validation of diagnostic screening test for pharmacogenomic targets for thiopurine drugs in indian pediatric acute lymphoblastic leukemia patients.

Joseph GT et al.

Frontiers in Pharmacology, 2025

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.

Chen F et al.

Npj Digital Medicine, 2024

39572625 (PubMed )
Supplement: 41746_2024_1331_MOESM2_ESM.xlsx › Supplementary_Data_6

Real-world NUDT15 genotyping and thiopurine treatment optimization in inflammatory bowel disease: a multicenter study.

Makuuchi M et al.

Journal of Gastroenterology, 2024

The frequency of NUDT15 rs116855232 and its impact on mercaptopurine-induced toxicity in Syrian children with acute lymphoblastic leukemia.

Muhammad M et al.

Frontiers in Oncology, 2024

Genetic profiling of NUDT15 in the Slovenian population.

Šmid A et al.

Pharmacogenomics, 2024

Prevalence of NUDT15 Genetic Variants and Incidence of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease: A Systematic Review and Meta-analysis.

Yu N et al.

Journal of Crohn's & Colitis, 2023

Comparative assessment of anti-cancer drugs against NUDT15 variants to prevent leucopenia side effect in leukemia patients.

V J et al.

Journal, Genetic Engineering & Biotechnology, 2023

The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia.

Nguyen ML et al.

Hgg Advances, 2023

Single-Nucleotide Polymorphisms, c.415C > T (Arg139Cys) and c.416G > A (Arg139His), in the NUDT15 Gene Are Associated with Thiopurine-Induced Leukopenia.

Isono T et al.

Biological & Pharmaceutical Bulletin, 2023

Development of Novel Mass Spectrum-Based Assay for Simultaneous Detection of 36 Variants in the 14 Pharmacogenetic Genes for the Japanese Population.

Yamamoto N et al.

Biological & Pharmaceutical Bulletin, 2023

Molecular dynamics simulations reveal the impact of NUDT15 R139C and R139H variants in structural conformation and dynamics.

Gómez-Rubio E et al.

Journal of Biomolecular Structure & Dynamics, 2023

Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review.

Gu J et al.

Frontiers in Pharmacology, 2023

The effects of NUDT15 and TPMT variants on mercaptopurine treatment in Vietnamese pediatric acute lymphoblastic leukemia patients.

Nghia H et al.

Pediatric Hematology and Oncology, 2022

A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population.

Poon KS et al.

Bmc Research Notes, 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

Pharmacogenetics of Drugs Used in the Treatment of Cancers.

Franczyk B et al.

Genes, 2022

NUDT15 Genetic Variants in Chinese Han, Uighur, Kirghiz, and Dai Nationalities.

Zhang F et al.

Frontiers in Pediatrics, 2022

NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.

Somazu S et al.

Journal of Cellular and Molecular Medicine, 2021

34636169 (PubMed )
Supplement: JCMM-25-10521-s001.pdf

Importance of NUDT15 Polymorphisms in Thiopurine Treatments.

Tanaka Y et al.

Journal of Personalized Medicine, 2021

Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance.

Cagiada M et al.

Molecular Biology and Evolution, 2021

33779753 (PubMed )
Supplement: msab095_supplementary_data.zip › __MAVE-metaanalysis__SI__44__lindorff__2020__.pdf

NUDT15 polymorphism influences the metabolism and therapeutic effects of acyclovir and ganciclovir.

Nishii R et al.

Nature Communications, 2021

NUDT15 polymorphism in healthy children with Bai nationality in Yunnan of China.

Pu G et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

Genome wide association studies for treatment-related adverse effects of pediatric acute lymphoblastic leukemia.

Franca R et al.

Wires Mechanisms of Disease, 2021

The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia.

Lee JM et al.

Children (basel, Switzerland), 2021

Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients.

Khaeso K et al.

Journal of Pediatric Genetics, 2021

Childhood acute lymphoblastic leukemia mercaptopurine intolerance is associated with NUDT15 variants.

Wang DS et al.

Pediatric Research, 2021

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Scott SA et al.

Clinical and Translational Science, 2021

32931151 (PubMed )
Supplement: CTS-14-204-s001.xlsx › Table_S1

Promising genes and variants to reduce chemotherapy adverse effects in acute lymphoblastic leukemia.

Bárcenas-López DA et al.

Translational Oncology, 2021

Rare Genotype of His/His in NUDT15 Codon 139 and Thiopurine-associated Adverse Events in a Case of Ulcerative Colitis.

Tomiyoshi K et al.

Internal Medicine (tokyo, Japan), 2020

NUDT15 gene variants and thiopurine-induced leukopenia in patients with inflammatory bowel disease.

Matsuoka K

Intestinal Research, 2020

Association of thiopurine S-methyltransferase and NUDT15 polymorphisms with azathioprine-induced myelotoxicity in Chinese patients with rheumatological disease.

Su SS et al.

Chinese Medical Journal, 2020

Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.

Suiter CC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Thiopurine-mediated impairment of hematopoietic stem and leukemia cells in Nudt15R138C knock-in mice.

Tatsumi G et al.

Leukemia, 2020

High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype.

Kakuta Y et al.

Journal of Gastroenterology, 2020

Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil.

Rodrigues JCG et al.

Plos One, 2020

Pathway genes and metabolites in thiopurine therapy in Korean children with acute lymphoblastic leukaemia.

Choi R et al.

British Journal of Clinical Pharmacology, 2019

Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Park SC et al.

Cells, 2019

Thiopurine intolerance-causing mutations in NUDT15 induce temperature-dependent destabilization of the catalytic site.

Man P et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2019

The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population

Jarrar YB et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2019

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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."