Varaico: Literature-Extracted Genetic Variants

Gene:NUDT15
Variant:p.R139C
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NUDT15

NM_018283.4:p.R139C

Associated Papers

Translating IBD Genomics into Clinical Practice.

Singh P et al.

Digestive Diseases and Sciences, 2026

Genetic Determinants of Hematopoietic Toxicity Risk in Thai Pediatric Patients Undergoing 6-Mercaptopurine Treatment.

Khaeso K et al.

Clinical and Translational Science, 2026

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update.

Maillard M et al.

Clinical Pharmacology and Therapeutics, 2026

Inferring germline pharmacogenomics from tumor transcriptome.

Yang W et al.

Pharmacogenetics and Genomics, 2026

Decoding genetic divergence: TPMT and NUDT15 polymorphisms in north India mirror Caucasian ancestry.

Singh A et al.

Intestinal Research, 2026

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between TPMT/NUDT15 and thiopurines.

Coenen MJH et al.

European Journal of Human Genetics : Ejhg, 2026

French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Gene Panel Analysis Through Genotyping or Sequencing in Pharmacogenetics.

Picard N et al.

Fundamental & Clinical Pharmacology, 2026

Addressing genetic diversity and health inequities: RELIVAF's proposal for Latin American pharmacogenomic guidelines.

Quiñones LA et al.

Frontiers in Pharmacology, 2026

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

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

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

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

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

Examination of the TPMT and NUDT15*3 Variants to Predict the Response to Thiopurines in an Italian Cohort of Patients with Inflammatory Bowel Disease.

Tavano F et al.

International Journal of Molecular Sciences, 2025

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

Lubis IS et al.

Medical Sciences (basel, Switzerland), 2025

Establishment of a novel predictive model for thiopurine-induced leucopenia based on the polymorphisms in the DNA-thioguanine nucleotide metabolite pathway in Chinese patients with inflammatory bowel disease.

Zhu X et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2025

Are single nucleotide polymorphisms underutilized for guiding treatment of inflammatory bowel disease?

van der Werf J et al.

Immunology and Cell Biology, 2025

Severe myelosuppression and alopecia after thiopurine initiation in a patient with NUDT15 deficiency.

Wu AS et al.

British Journal of Clinical Pharmacology, 2025

Integrative Computational Analysis of Common EXO5 Haplotypes: Impact on Protein Dynamics, Genome Stability, and Cancer Progression.

Mazza F et al.

Journal of Chemical Information and Modeling, 2025

40115981 (PubMed )
Supplement: ci5c00067_si_002.xlsx › scored_ALL_haplotypes_1MAF_cano

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

Maillard M et al.

Clinical Pharmacology and Therapeutics, 2025

Effectiveness and safety of thiopurines in inflammatory bowel disease patients with NUDT15 polymorphism: a real-world retrospective study.

Chatterjee A et al.

Expert Review of Clinical Pharmacology, 2025

Pharmacogenomic Assessment of Genes Implicated in Thiopurine Metabolism and Toxicity in a UK Cohort of Pediatric Patients With Inflammatory Bowel Disease.

Coelho T et al.

Inflammatory Bowel Diseases, 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: mmc5.xlsx › Sheet1

A case of rapidly progressive hair loss due to azathioprine, and the prevalence of NUDT15 variants among Japanese patients with autoimmune blistering diseases: A single-center retrospective observational study.

Katayama S et al.

The Journal of Dermatology, 2025

Azathioprine-related alopecia totalis due to NUDT 15 mutation in a pregnant systemic lupus erythematosus patient with successful obstetric outcome.

Chandwani A et al.

Rheumatology (oxford, England), 2025

Gene polymorphisms associated with immunosuppressant adverse effects in systemic lupus erythematosus: a narrative review.

Hamdani S et al.

Frontiers in Genetics, 2025

Pharmacogenomics and genetic ancestry in Colombia: a study on all variant drug annotations of PharmGKB.

Acosta-Monterrosa AA et al.

Frontiers in Pharmacology, 2025

40949159 (PubMed )
Supplement: Table1.xlsx › Studies

Higher prevalence of NUDT15 rs116855232 compared to TPMT rs1142345 in a Chinese cohort and its implications for thiopurine therapy.

Zhao C et al.

Frontiers in Pharmacology, 2025

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

Efficacy and safety of azathioprine in patients with Cronkhite-Canada syndrome: a case series from Peking Union Medical College Hospital.

Xu Q et al.

Bmc Pharmacology & Toxicology, 2024

Coupling cellular drug-target engagement to downstream pharmacology with CeTEAM.

Valerie NCK et al.

Nature Communications, 2024

Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients.

Kennedy AM et al.

Inflammatory Bowel Diseases, 2024

Genetic association analysis and frequency of NUDT15*3 with thiopurine-induced myelosuppression in patients with inflammatory bowel disease in a large Dutch cohort.

Deenen MJ et al.

The Pharmacogenomics Journal, 2024

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

Vitamin D in Primary Sjogren's Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases.

Dabravolski SA et al.

Diagnostics (basel, Switzerland), 2024

Combined or High Dose Immunosuppression in Inflammatory Bowel Disease patients who are NUDT15 Homozygous Harbors Risk of Developing Invasive Fungal Infections: A Case Series.

Thomas DM et al.

Inflammatory Bowel Diseases, 2024

Universal Targeted Haplotyping by Droplet Digital PCR Sequencing and Its Applications in Noninvasive Prenatal Testing and Pharmacogenetics Analysis.

Gai W et al.

Clinical Chemistry, 2024

Influence of TPMT and NUDT15 Genetic Polymorphisms on Mercaptopurine Pharmacokinetics in Healthy Volunteers.

Kong Q et al.

Genetic Testing and Molecular Biomarkers, 2024

Concordance of phenotypic characteristics among patients with familial Crohn's disease in China.

Deng XX et al.

Journal of Digestive Diseases, 2024

Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn's disease patients.

Salazar J et al.

The Pharmacogenomics Journal, 2024

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

Makuuchi M et al.

Journal of Gastroenterology, 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
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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."