Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R367Q
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NT5C2

NM_001351169.2:p.R367Q

Associated Papers

Application of Targeted RNA-Sequencing in High-Risk B-Cell Acute Lymphoblastic Leukemia (B-ALL): Identifying Fusions, IKZF1 Deletions, and CRLF2 Expression in an Indian Cohort.

Gupta SK et al.

International Journal of Laboratory Hematology, 2026

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

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

Treatment-related mutagenic processes in acute lymphoblastic leukemia.

Van der Ham CG et al.

Haematologica, 2025

Molecular Profiling Reveals Novel Gene Fusions and Genetic Markers for Refined Patient Stratification in Pediatric Acute Lymphoblastic Leukemia.

Péterffy B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data

Preferential Genetic Pathways Lead to Relapses in Adult B-Cell Acute Lymphoblastic Leukemia.

Navas-Acosta J et al.

Cancers, 2024

39766099 (PubMed )
Supplement: cancers-16-04200-s001.zip › Supplementary_tables_Cancers2024.xlsx › Table_S4

An Alternatively Spliced Gain-of-Function NT5C2 Isoform Contributes to Chemoresistance in Acute Lymphoblastic Leukemia.

Torres-Diz M et al.

Cancer Research, 2024

An Alternatively Spliced Gain-of-Function NT5C2 Isoform Contributes to Chemoresistance in Acute Lymphoblastic Leukemia.

Torres-Diz M et al.

Biorxiv : the Preprint Server for Biology, 2024

Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.

Kebede AM et al.

Frontiers in Oncology, 2024

39687881 (PubMed )
Supplement: Table2.xlsx › Sheet1

Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.

Liu A et al.

Hematology Reports, 2023

37092519 (PubMed )
Supplement: hematolrep-15-00025-s001.zip › hematolrep-2176609-supplementary.pdf

CRISPR/Cas9-Mediated Induction of Relapse-Specific NT5C2 and PRPS1 Mutations Confers Thiopurine Resistance as a Relapsed Lymphoid Leukemia Model.

Nguyen TTT et al.

Molecular Pharmacology, 2023

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Richter-Pechańska P et al.

Leukemia, 2022

35585141 (PubMed )
Supplement: 41375_2022_1587_MOESM1_ESM.xlsx › Suppl.Tab.1

NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.

Somazu S et al.

Journal of Cellular and Molecular Medicine, 2021

Genomic Abnormalities as Biomarkers and Therapeutic Targets in Acute Myeloid Leukemia.

Ribeiro S et al.

Cancers, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › F_batch

Subclonal NT5C2 mutations are associated with poor outcomes after relapse of pediatric acute lymphoblastic leukemia.

Barz MJ et al.

Blood, 2020

Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures.

Billon P et al.

Cell Reports, 2020

Mutation analysis in Korean patients with T-cell acute lymphoblastic leukemia.

Park KJ et al.

Pediatric Hematology and Oncology, 2020

Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.

Li B et al.

Blood, 2020

Mechanisms of NT5C2-Mediated Thiopurine Resistance in Acute Lymphoblastic Leukemia.

Moriyama T et al.

Molecular Cancer Therapeutics, 2019

Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Khater F et al.

Jama Network Open, 2019

Structure and Mechanisms of NT5C2 Mutations Driving Thiopurine Resistance in Relapsed Lymphoblastic Leukemia.

Dieck CL et al.

Cancer Cell, 2018

Relapsed acute lymphoblastic leukemia-specific mutations in NT5C2 cluster into hotspots driving intersubunit stimulation.

Hnízda A et al.

Leukemia, 2018

Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemia.

Tzoneva G et al.

Nature, 2018

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P et al.

Blood Cancer Journal, 2017

28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts

Oligomeric interface modulation causes misregulation of purine 5´-nucleotidase in relapsed leukemia.

Hnízda A et al.

Bmc Biology, 2016

Leukemia Relapse-Associated Mutation of NT5C2 Gene is Rare in de Novo Acute Leukemias and Solid Tumors.

Oh HR et al.

Pathology Oncology Research : Por, 2016

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation.

Kunz JB et al.

Haematologica, 2015

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Ma X et al.

Nature Communications, 2015

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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."