Varaico: Literature-Extracted Genetic Variants

Gene:NUDT15
Variant:p.P12_G13ins2
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NUDT15

NM_018283.4:p.P12_G13ins2

Associated Papers

Genetic Determinants of Hematopoietic Toxicity Risk in Thai Pediatric Patients Undergoing 6-Mercaptopurine Treatment.

Khaeso K et al.

Clinical and Translational Science, 2026

French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Gene Panel Analysis Through Genotyping or Sequencing in Pharmacogenetics.

Picard N et al.

Fundamental & Clinical Pharmacology, 2026

Pharmacogenetic Analysis of TPMT and NUDT15 in a European Pediatric Cohort with IBD and Autoimmune Diseases: Frequency Data and Clinical Relevance.

Pau A et al.

Genes, 2025

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Leong IUS et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025

Gene polymorphisms associated with immunosuppressant adverse effects in systemic lupus erythematosus: a narrative review.

Hamdani S et al.

Frontiers in Genetics, 2025

Higher prevalence of NUDT15 rs116855232 compared to TPMT rs1142345 in a Chinese cohort and its implications for thiopurine therapy.

Zhao C et al.

Frontiers in Pharmacology, 2025

Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial.

Roncato R et al.

Jama Network Open, 2024

39641926 (PubMed )
Supplement: jamanetwopen-e2449441-s001.pdf

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.

Chen F et al.

Npj Digital Medicine, 2024

39572625 (PubMed )
Supplement: 41746_2024_1331_MOESM2_ESM.xlsx › Supplementary_Data_6

Universal Targeted Haplotyping by Droplet Digital PCR Sequencing and Its Applications in Noninvasive Prenatal Testing and Pharmacogenetics Analysis.

Gai W et al.

Clinical Chemistry, 2024

Concordance of phenotypic characteristics among patients with familial Crohn's disease in China.

Deng XX et al.

Journal of Digestive Diseases, 2024

Association of NUDT15 gene polymorphism with adverse reaction, treatment efficacy, and dose of 6-mercaptopurine in patients with acute lymphoblastic leukemia: a systematic review and meta-analysis.

Du S et al.

Haematologica, 2024

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.

Guo F et al.

Human Mutation, 2024

40225944 (PubMed )
Supplement: 9115364.f1.pdf

Prevalence of NUDT15 Genetic Variants and Incidence of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease: A Systematic Review and Meta-analysis.

Yu N et al.

Journal of Crohn's & Colitis, 2023

A Simple, Rapid, and Cost-Effective PCR Procedure for Detection of NUDT15 Gene Variants in Vietnamese Patients with Acute Lymphoblastic Leukemia.

Tram DB et al.

Journal of Laboratory Physicians, 2023

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation.

He X et al.

Veterinary Sciences, 2023

The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia.

Nguyen ML et al.

Hgg Advances, 2023

36873097 (PubMed )
Supplement: mmc2.pdf

Allele-specific polymerase chain reaction can determine the diplotype of NUDT15 variants in patients with childhood acute lymphoblastic Leukemia.

Yu CH et al.

Scientific Reports, 2023

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

Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.

Scott ER et al.

Human Mutation, 2022

A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population.

Poon KS et al.

Bmc Research Notes, 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_MOESM4_ESM.xlsx › Novel_Previously_described_var.

A rare case of Azathioprine-induced leukopenia in an European woman.

Séverine W et al.

Acta Clinica Belgica, 2022

NUDT15 Genetic Variants in Chinese Han, Uighur, Kirghiz, and Dai Nationalities.

Zhang F et al.

Frontiers in Pediatrics, 2022

Nudix Hydroxylase 15 Mutations Strongly Predict Thiopurine-Induced Leukopenia Across Different Asian Ethnicities: Implications for Screening in a Diverse Population.

Khoo XH et al.

Frontiers in Medicine, 2022

Importance of NUDT15 Polymorphisms in Thiopurine Treatments.

Tanaka Y et al.

Journal of Personalized Medicine, 2021

An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia.

Tanaka Y et al.

Haematologica, 2021

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

Genome wide association studies for treatment-related adverse effects of pediatric acute lymphoblastic leukemia.

Franca R et al.

Wires Mechanisms of Disease, 2021

Prevalence of polymorphisms in thiopurine metabolism and association with adverse outcomes: a South Asian region-specific systematic review and meta-analysis.

Jena A et al.

Expert Review of Clinical Pharmacology, 2021

The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia.

Lee JM et al.

Children (basel, Switzerland), 2021

Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients.

Khaeso K et al.

Journal of Pediatric Genetics, 2021

Childhood acute lymphoblastic leukemia mercaptopurine intolerance is associated with NUDT15 variants.

Wang DS et al.

Pediatric Research, 2021

Meta-Analysis of NUDT15 Genetic Polymorphism on Thiopurine-Induced Myelosuppression in Asian Populations.

Khaeso K et al.

Frontiers in Pharmacology, 2021

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Cost-effectiveness analysis of pretreatment screening for NUDT15 defective alleles.

Zarca K et al.

Pharmacogenetics and Genomics, 2020

Determination of NUDT15 variants by targeted sequencing can identify compound heterozygosity in pediatric acute lymphoblastic leukemia patients.

Yu CH et al.

Scientific Reports, 2020

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

Chung CCY et al.

The Lancet Regional Health. Western Pacific, 2020

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

Matsuoka K

Intestinal Research, 2020

Association of NUDT15*3 and FPGS 2572C>T Variants with the Risk of Early Hematologic Toxicity During 6-MP and Low-Dose Methotrexate-Based Maintenance Therapy in Indian Patients with Acute Lymphoblastic Leukemia.

Kodidela S et al.

Genes, 2020

NUDT15 genetic variants are related to thiopurine-induced neutropenia in Thai children with acute lymphoblastic leukemia.

Puangpetch A et al.

Pharmacogenomics, 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

Pharmacogene Variation Consortium Gene Introduction: NUDT15.

Yang JJ et al.

Clinical Pharmacology and Therapeutics, 2019

[Significance of NUDT15 gene in individualized treatment with 6-mercaptopurine in children with acute lymphoblastic leukemia].

He J et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019

Association between the c.415C > T, c.52G > A, and 36_37insGGAGTC polymorphisms of NUDT 15 and thiopurine-induced leukopenia, thiopurine intolerance, and severe hair loss: an updated meta-analysis.

Wang R et al.

Drug Design, Development and Therapy, 2019

Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms.

Tsujimoto S et al.

Leukemia, 2018

NUDT15 Variants Cause Hematopoietic Toxicity with Low 6-TGN Levels in Children with Acute Lymphoblastic Leukemia.

Yi ES et al.

Cancer Research and Treatment, 2018

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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."