Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.S125L
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TPMT

NM_000367.5:p.S125L

Associated Papers

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1

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_MOESM4_ESM.xlsx › Novel_Previously_described_var.

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

Goljan E et al.

Plos One, 2022

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma.

Cao J et al.

Frontiers in Oncology, 2021

34150614 (PubMed )
Supplement: Table_2.xlsx › Sheet_1

Applying Multiplex Assays to Understand Variation in Pharmacogenes.

Chiasson M et al.

Clinical Pharmacology and Therapeutics, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Classification and regression tree-based prediction of 6-mercaptopurine-induced leucopenia grades in children with acute lymphoblastic leukemia.

Naushad SM et al.

Cancer Chemotherapy and Pharmacology, 2019

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

Zhou Y et al.

The Pharmacogenomics Journal, 2019

30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

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

Fazel-Najafabadi E et al.

Computational Biology and Chemistry, 2015

Nomenclature for alleles of the thiopurine methyltransferase gene.

Appell ML et al.

Pharmacogenetics and Genomics, 2013

Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity in Indian children with acute lymphoblastic leukemia.

Dorababu P et al.

European Journal of Clinical Pharmacology, 2012

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

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

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

Salavaggione OE et al.

Pharmacogenetics and Genomics, 2005

[Relationship between single nucleotide polymorphisms in thiopurine methyltransferase gene and tolerance to thiopurines in acute leukemia].

Ma XL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003

In vitro characterization of four novel non-functional variants of the thiopurine S-methyltransferase.

Hamdan-Khalil R et al.

Biochemical and Biophysical Research Communications, 2003

Insights into S-adenosyl-l-methionine (SAM)-dependent methyltransferase related diseases and genetic polymorphisms.

Li J et al.

Mutation Research. Reviews in Mutation Research, 0

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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."