Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.Y240C
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TPMT

NM_000367.5:p.Y240C

Associated Papers

Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo.

Pasha F et al.

Human Genome Variation, 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

Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.

Tremmel R et al.

Clinical Pharmacology and Therapeutics, 2026

41074844 (PubMed )
Supplement: CPT-119-241-s005.pdf

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

Role of common host genome variants in Childhood Acute Lymphoblastic Leukemia.

Mikkelsen T et al.

Leukemia, 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

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

TPMT Genotyping in 1000 Indian Patients: 14-Year Experience from a Tertiary-Care Hospital.

Paradkar MU et al.

Ejifcc, 2025

Thiopurine S-methyltransferase (TPMT) activity cutoffs in the Thai population.

Jinda P et al.

Annals of Clinical Biochemistry, 2025

Assessment of thiopurine S-methyltransferase allele frequencies and phenotype-genotype concordance in a Tunisian population.

Souissi S et al.

Drug Metabolism and Personalized Therapy, 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

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

Clinical relevance of thiopurine methyltransferase genotype testing for azathioprine in dermatology.

Ramassamy S et al.

Clinical and Experimental Dermatology, 2025

Pharmacogenomic variants in the Pumi population from Yunnan, China.

Yang X et al.

Gene, 2025

Clinical Pharmacogenetics: Results After Implementation of Preemptive Tests in Daily Routine.

Díaz-Villamarín X et al.

Journal of Personalized Medicine, 2025

Ancestral Diversity in Pharmacogenomics Affects Treatment for Hispanic/Latine Populations With Inflammatory Bowel Disease.

Ioannou S et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025

Real-time genomic characterization of pediatric acute leukemia using adaptive sampling.

Geyer J et al.

Leukemia, 2025

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

The evaluation of the impact of NUDT15 variants on thiopurine metabolism in Japanese children with acute lymphoblastic leukemia.

Tanaka Y et al.

Cancer Chemotherapy and Pharmacology, 2025

Relationship Between Thiopurine S-Methyltransferase Genotype and Phenotype in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia.

Ali AM et al.

The Journal of Pediatric Pharmacology and Therapeutics : Jppt : the Official Journal of Ppag, 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

Thiopurine S-methyltransferase - An important intersection of drug-drug interactions in thiopurine treatment.

Urbančič D et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Leong IUS et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025

Real-time genomic characterization of pediatric acute leukemia using adaptive sampling.

Geyer J et al.

Biorxiv : the Preprint Server for Biology, 2025

Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.

Litonius K et al.

Clinical Pharmacology and Therapeutics, 2025

39365028 (PubMed )
Supplement: CPT-117-278-s001.pdf

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

Hamdani S et al.

Frontiers in Genetics, 2025

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

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial.

Roncato R et al.

Jama Network Open, 2024

39641926 (PubMed )
Supplement: jamanetwopen-e2449441-s001.pdf

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

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

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

Kong Q et al.

Genetic Testing and Molecular Biomarkers, 2024

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

Salazar J et al.

The Pharmacogenomics Journal, 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

Association of TPMT and NUDT15 gene polymorphisms with azathioprine-induced leukopenia: A case-control study in Eastern India.

Mitra S et al.

Indian Journal of Pharmacology, 2024

A New Cloud-Native Tool for Pharmacogenetic Analysis.

Yuan DY et al.

Genes, 2024

38540411 (PubMed )
Supplement: genes-15-00352-s001.zip › Pgxtools__a_new_cloud-native_tool_for_Pharmacogenetic_analysis-Supplemental-1-revised.pdf

Transcriptome analysis reveals involvement of thiopurine S-methyltransferase in oxidation-reduction processes.

Šmid A et al.

European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2024

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.

Guo F et al.

Human Mutation, 2024

40225944 (PubMed )
Supplement: 9115364.f1.pdf

Impact of Mercaptopurine Metabolites on Disease Outcome in the AIEOP-BFM ALL 2009 Protocol for Acute Lymphoblastic Leukemia.

Franca R et al.

Clinical Pharmacology and Therapeutics, 2023

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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."