Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.R215H
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TPMT

NM_000367.5:p.R215H

Associated Papers

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

Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism.

Sterner RM et al.

The Journal of Molecular Diagnostics : Jmd, 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_MOESM2_ESM.xlsx › Sheet1

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

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

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

Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Cereja Pantoja KBC et al.

Genes, 2022

35205374 (PubMed )
Supplement: genes-13-00330-s001.zip › genes-1515643-SI.pdf

Comprehensive characterization of pharmacogenetic variants in TPMT and NUDT15 in children with acute lymphoblastic leukemia.

Moriyama T et al.

Pharmacogenetics and Genomics, 2022

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

Goljan E et al.

Plos One, 2022

Understanding thiopurine methyltransferase polymorphisms for the targeted treatment of hematologic malignancies.

Franca R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2021

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

Zhou Y et al.

British Journal of Cancer, 2020

Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity.

Chansavang A et al.

Pharmacogenomics, 2020

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

Harmand PO et al.

Genes, 2020

Association between the TPMT*3C (rs1142345) Polymorphism and the Risk of Death in the Treatment of Acute Lymphoblastic Leukemia in Children from the Brazilian Amazon Region.

Cardoso de Carvalho D et al.

Genes, 2020

Applying Multiplex Assays to Understand Variation in Pharmacogenes.

Chiasson M et al.

Clinical Pharmacology and Therapeutics, 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

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

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

Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait.

Liu C et al.

Clinical Pharmacology and Therapeutics, 2017

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

Fazel-Najafabadi E et al.

Computational Biology and Chemistry, 2015

Germline oncopharmacogenetics, a promising field in cancer therapy.

Pesenti C et al.

Cellular Oncology (dordrecht, Netherlands), 2015

Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants.

Beránek M et al.

Folia Biologica, 2015

Identification of a novel thiopurine S-methyltransferase allele (TPMT*37).

Roberts RL et al.

Pharmacogenetics and Genomics, 2014

Single nucleotide polymorphism and its dynamics for pharmacogenomics.

Katara P

Interdisciplinary Sciences, Computational Life Sciences, 2014

Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective.

Umamaheswaran G et al.

The Indian Journal of Medical Research, 2014

Nomenclature for alleles of the thiopurine methyltransferase gene.

Appell ML et al.

Pharmacogenetics and Genomics, 2013

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

Adverse reactions to azathioprine cannot be predicted by thiopurine S-methyltransferase genotype in Japanese patients with inflammatory bowel disease.

Takatsu N et al.

Journal of Gastroenterology and Hepatology, 2009

TPMT genetic variations in populations of the Russian Federation.

Samochatova EV et al.

Pediatric Blood & Cancer, 2009

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 panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

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

Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique.

Nasedkina TV et al.

European Journal of Human Genetics : Ejhg, 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

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

Lindqvist M et al.

Pharmacogenetics, 2004

Pyrosequencing of TPMT alleles in a general Swedish population and in patients with inflammatory bowel disease.

Haglund S et al.

Clinical Chemistry, 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

[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

Genetic polymorphism of thiopurine S-methyltransferase in Argentina.

Laróvere LE et al.

Annals of Clinical Biochemistry, 2003

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

Chang JG et al.

Pharmacogenetics, 2002

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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."