Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.Y240S
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TPMT

NM_000367.5:p.Y240S

Associated Papers

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

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

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

Importance of NUDT15 Polymorphisms in Thiopurine Treatments.

Tanaka Y et al.

Journal of Personalized Medicine, 2021

Pharmacogenetic studies of thiopurine methyltransferase genotype-phenotype concordance and effect of methotrexate on thiopurine metabolism.

Zimdahl Kahlin A et al.

Basic & Clinical Pharmacology & Toxicology, 2021

Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT.

Harmand PO et al.

Genes, 2020

Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopurine Intolerant Variant Alleles NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C).

Fong WY et al.

Diagnostics (basel, Switzerland), 2017

One amino acid makes a difference-Characterization of a new TPMT allele and the influence of SAM on TPMT stability.

Iu YPH et al.

Scientific Reports, 2017

Multidrug resistance protein 4 (MRP4) polymorphisms impact the 6-mercaptopurine dose tolerance during maintenance therapy in Japanese childhood acute lymphoblastic leukemia.

Tanaka Y et al.

The Pharmacogenomics Journal, 2015

Methylenetetrahydrofolate reductase gene haplotypes affect toxicity during maintenance therapy for childhood acute lymphoblastic leukemia in Japanese patients.

Tanaka Y et al.

Leukemia & Lymphoma, 2014

Thiopurine S-methyltransferase gene (TMPT) polymorphisms in a Mexican population of healthy individuals and leukemic patients.

Taja-Chayeb L et al.

Medical Oncology (northwood, London, England), 2008

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique.

Oliveira E et al.

European Journal of Clinical Pharmacology, 2007

Pharmacogenetics for individualized cancer chemotherapy.

Efferth T et al.

Pharmacology & Therapeutics, 2005

Pharmacogenetics of thiopurine S-methyltransferase and thiopurine therapy.

Evans WE

Therapeutic Drug Monitoring, 2004

Frequency of thiopurine S-methyltransferase genetic variation in Thai children with acute leukemia.

Hongeng S et al.

Medical and Pediatric Oncology, 2000

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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."