Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.R163P
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TPMT

NM_000367.5:p.R163P

Associated Papers

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

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

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

Beránek M et al.

Folia Biologica, 2015

Nomenclature for alleles of the thiopurine methyltransferase gene.

Appell ML et al.

Pharmacogenetics and Genomics, 2013

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

Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function.

Schaeffeler E et al.

Human Mutation, 2006

[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

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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."