Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.R163C
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TPMT

NM_000367.5:p.R163C

Associated Papers

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

Sterner RM et al.

The Journal of Molecular Diagnostics : Jmd, 2024

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

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

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

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

Fazel-Najafabadi E et al.

Computational Biology and Chemistry, 2015

Thiopurine methyltransferase genotype-phenotype discordance and thiopurine active metabolite formation in childhood acute lymphoblastic leukaemia.

Lennard L et al.

British Journal of Clinical Pharmacology, 2013

Nomenclature for alleles of the thiopurine methyltransferase gene.

Appell ML et al.

Pharmacogenetics and Genomics, 2013

Comparative and veterinary pharmacogenomics.

Mosher CM et al.

Handbook of Experimental Pharmacology, 2010

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

Udaka T et al.

Genetic Testing, 2005

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