Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.Y180F
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TPMT

NM_000367.5:p.Y180F

Associated Papers

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

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

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

Kong Q et al.

Genetic Testing and Molecular Biomarkers, 2024

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

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

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

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Goljan E et al.

Plos One, 2022

Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia: Malaysia-Singapore Acute Lymphoblastic Leukemia 2020 Implementation Strategy.

Ni Chin WH et al.

The Journal of Molecular Diagnostics : Jmd, 2021

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Association between TPMT*3C and decreased thiopurine S-methyltransferase activity in patients with neuromyelitis optica spectrum disorders in China.

Gong X et al.

The International Journal of Neuroscience, 2018

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc

Predictive role of NUDT15 variants on thiopurine-induced myelotoxicity in Asian inflammatory bowel disease patients.

Sutiman N et al.

Pharmacogenomics, 2018

Thiopurine S-Methyltransferase Polymorphisms in Korean Dermatologic Patients.

Lee M et al.

Annals of Dermatology, 2017

In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8.

Wennerstrand P et al.

Acs Omega, 2017

Structural and functional impact of missense mutations in TPMT: An integrated computational approach.

Fazel-Najafabadi E et al.

Computational Biology and Chemistry, 2015

Complete sequence-based screening of TPMT variants in the Korean population.

Kim HY et al.

Pharmacogenetics and Genomics, 2015

Nomenclature for alleles of the thiopurine methyltransferase gene.

Appell ML et al.

Pharmacogenetics and Genomics, 2013

Validation of new allele-specific real-time PCR system for thiopurine methyltransferase genotyping in Korean population.

Kim S et al.

Biomed Research International, 2013

Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.

Hao D et al.

Science China. Life Sciences, 2010

Thiopurine S-methyltransferase alleles, TPMT(*)2, (*)3B and (*)3C, and genotype frequencies in an Indian population.

Murugesan R et al.

Experimental and Therapeutic Medicine, 2010

Duplex pyrosequencing of the TPMT*3C and TPMT*6 alleles in Korean and Vietnamese populations.

Lee SS et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALD-TOF mass spectrometry: reliable genotyping in different ethnic groups.

Schaeffeler E et al.

Clinical Chemistry, 2008

Functional characterization of 23 allelic variants of thiopurine S-methyltransferase gene (TPMT*2 - *24).

Ujiie S et al.

Pharmacogenetics and Genomics, 2008

Clinical pharmacology and pharmacogenetics of thiopurines.

Sahasranaman S et al.

European Journal of Clinical Pharmacology, 2008

Four human thiopurine s-methyltransferase alleles severely affect protein structure and dynamics.

Rutherford K et al.

Journal of Molecular Biology, 2008

Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array.

Lu Y et al.

Analytical Biochemistry, 2007

Genetic testing for pharmacogenetics and its clinical application in drug therapy.

Hiratsuka M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics.

Salavaggione OE et al.

Pharmacogenetics and Genomics, 2005

Predicting drug response and toxicity based on gene polymorphisms.

Robert J et al.

Critical Reviews in Oncology/hematology, 2005

Genotyping of thiopurine methyltransferase using pyrosequencing.

Okada Y et al.

Biological & Pharmaceutical Bulletin, 2005

Comprehensive screening of the thiopurine methyltransferase polymorphisms by denaturing high-performance liquid chromatography.

Udaka T et al.

Genetic Testing, 2005

Thiopurine S-methyltransferase genetic polymorphism in the Thai population.

Srimartpirom S et al.

British Journal of Clinical Pharmacology, 2004

Pharmacogenetics of inflammatory bowel disease.

Mascheretti S et al.

Best Practice & Research. Clinical Gastroenterology, 2004

Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity.

Lindqvist M et al.

Pharmacogenetics, 2004

Clinical utility of thiopurine S-methyltransferase genotyping.

Corominas H et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2004

Genetic polymorphism of thiopurine S-methyltransferase in Argentina.

Laróvere LE et al.

Annals of Clinical Biochemistry, 2003

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations.

Chang JG et al.

Pharmacogenetics, 2002

Detection of one single mutation predicts thiopurine S-methyltransferase activity in a population of Saami in northern Norway.

Loennechen T et al.

Clinical Pharmacology and Therapeutics, 2001

Genetic polymorphisms of thiopurine S-methyltransferase and 6-mercaptopurine toxicity in Japanese children with acute lymphoblastic leukaemia.

Ando M et al.

Pharmacogenetics, 2001

High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC.

Schaeffeler E et al.

Clinical Chemistry, 2001

Recent advances in the pharmacogenomics of thiopurine methyltransferase.

Coulthard SA et al.

The Pharmacogenomics Journal, 2001

Genotyping of eight thiopurine methyltransferase mutations: three-color multiplexing, "two-color/shared" anchor, and fluorescence-quenching hybridization probe assays based on thermodynamic nearest-neighbor probe design.

Schütz E et al.

Clinical Chemistry, 2000

Genetic polymorphism of thiopurine S-methyltransferase: molecular mechanisms and clinical importance.

Krynetski EY et al.

Pharmacology, 2000

Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia.

McLeod HL et al.

Leukemia, 2000

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis.

Alves S et al.

Human Mutation, 2000

Inherited variations in drug-metabolizing enzymes: significance in clinical oncology.

Iyer L

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 1999

Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransferase paradigm.

Krynetski EY et al.

Pharmaceutical Research, 1999

Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis.

Spire-Vayron de la Moureyre C et al.

Human Mutation, 1998

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