Varaico: Literature-Extracted Genetic Variants

Gene:TPMT
Variant:p.P139S
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TPMT

NM_000367.5:p.P139S

Associated Papers

Examination of the TPMT and NUDT15*3 Variants to Predict the Response to Thiopurines in an Italian Cohort of Patients with Inflammatory Bowel Disease.

Tavano F et al.

International Journal of Molecular Sciences, 2025

40869181 (PubMed )
Supplement: ijms-26-07860-s001.zip › ijms-3728682 › Table_S1_REVISED_VERSION_Tavano_et_al..xlsx › Table_S1

Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients.

Kennedy AM et al.

Inflammatory Bowel Diseases, 2024

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

Nudix hydrolase 15 (NUDT15) loss-of-function variants in an Australian inflammatory bowel disease population.

Afrin S et al.

Internal Medicine Journal, 2022

NUDT15 polymorphism in healthy children with Bai nationality in Yunnan of China.

Pu G et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

NUDT15 gene variants and thiopurine-induced leukopenia in patients with inflammatory bowel disease.

Matsuoka K

Intestinal Research, 2020

Thiopurine S-methyltransferase and Pemphigus Vulgaris: A Phenotype-Genotype Study.

Mokhtari M et al.

Iranian Journal of Pathology, 2020

Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry.

Schaeffeler E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30728528 (PubMed )
Supplement: 41436_2019_448_MOESM1_ESM.pdf

Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.

Liang WS et al.

Genome Research, 2017

28373299 (PubMed )
Supplement: supp_gr.213348.116_Supplemental_Tables.xlsx › SuppTableS5

Crystal structures of NUDT15 variants enabled by a potent inhibitor reveal the structural basis for thiopurine sensitivity.

Rehling D et al.

The Journal of Biological Chemistry, 0

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