Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.R226Q
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TPMT

NM_000367.5:p.R226Q

Associated Papers

Pharmacogenomic Assessment of Genes Implicated in Thiopurine Metabolism and Toxicity in a UK Cohort of Pediatric Patients With Inflammatory Bowel Disease.

Coelho T et al.

Inflammatory Bowel Diseases, 2025

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

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

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

Harmand PO et al.

Genes, 2020

Applying Multiplex Assays to Understand Variation in Pharmacogenes.

Chiasson M et al.

Clinical Pharmacology and Therapeutics, 2019

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

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

Liu C et al.

Clinical Pharmacology and Therapeutics, 2017

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

Udaka T et al.

Genetic Testing, 2005

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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."