Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.A80P
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TPMT

NM_000367.5:p.A80P

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

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

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

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

Ramassamy S et al.

Clinical and Experimental Dermatology, 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

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

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

The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.

Baker HA et al.

Journal of Cell Science, 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

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

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 › _Supplemental_Figure_S3__HG01183_basic_report_TPMT_Thiopurine_Azathioprine.html.pdf

NUDT15 and TPMT polymorphisms in three distinct native populations of the Brazilian Amazon.

Perini JA et al.

Frontiers in Pharmacology, 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

Azathioprine dose tailoring based on pharmacogenetic information: Insights of clinical implementation.

Díaz-Villamarín X et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

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

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.

Balciuniene J et al.

Jama Network Open, 2023

37523181 (PubMed )
Supplement: jamanetwopen-e2326445-s001.pdf

Thiopurine Methyltransferase Intermediate Metabolizer Status and Thiopurine-Associated Toxicity During Maintenance Therapy in Childhood Acute Lymphoblastic Leukemia.

Schwarz UI et al.

Clinical Pharmacology and Therapeutics, 2023

TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population.

Mora Y et al.

Pharmacogenomics, 2023

Pharmacogenetics of anxiety and depression in Alzheimer's disease.

Cacabelos R et al.

Pharmacogenomics, 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

Population-Specific Distribution of TPMT Deficiency Variants and Ancestry Proportions in Ecuadorian Ethnic Groups: Towards Personalized Medicine.

Gallardo-Cóndor J et al.

Therapeutics and Clinical Risk Management, 2023

Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Yang W et al.

Jama Network Open, 2022

36580335 (PubMed )
Supplement: jamanetwopen-e2248803-s001.pdf

A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics.

Saxena S et al.

Scientific Reports, 2022

Role of Genetic Polymorphisms in Drug-Metabolizing Enzyme-Mediated Toxicity and Pharmacokinetic Resistance to Anti-Cancer Agents: A Review on the Pharmacogenomics Aspect.

Narendra G et al.

Clinical Pharmacokinetics, 2022

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

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Dong W et al.

Journal of Lipid Research, 2022

35460704 (PubMed )
Supplement: mmc1.pdf

The Value of Pharmacogenetics to Reduce Drug-Related Toxicity in Cancer Patients.

Mhandire DZ et al.

Molecular Diagnosis & Therapy, 2022

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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."