Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.G250E
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ABL1

NM_005157.6:p.G250E

Associated Papers

Next-generation sequencing from chronic myeloid leukemia dried blood spots: insights and implications for global oncology.

Oehler VG et al.

Leukemia, 2026

Advances in Targeting BCR-ABLT315I Mutation with Imatinib Derivatives and Hybrid Anti-Leukemic Molecules.

Tuzikiewicz A et al.

Molecules (basel, Switzerland), 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Comprehensive resistance profiling of chronic myeloid leukaemia associated ABL1 variants against five tyrosine kinase inhibitors using prime editing.

Jung Y et al.

Nature Biomedical Engineering, 2025

Innovative rapid screening for complex BCR-ABL1 kinase domain mutations in TKI-treated leukaemia patients.

Lan Y et al.

British Journal of Cancer, 2025

Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report.

Zhou X et al.

Oncology Letters, 2025

Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.

Krizkova J et al.

Leukemia, 2025

40295826 (PubMed )
Supplement: 41375_2025_2609_MOESM1_ESM.pdf

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 2025

Mutation of Epigenetic Regulators at Diagnosis Is an Independent Predictor of Tyrosine Kinase Inhibitor Treatment Failure in Chronic Myeloid Leukemia: A Report From the RESIDIAG Study.

Guerineau H et al.

American Journal of Hematology, 2025

39654506 (PubMed )
Supplement: supplement_1.pdf

Significance of Somatic Mutation Profiling in CML Beyond BCR-ABL: A Retrospective Study of the Indian Population.

Chaudhary P et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

Characteristics of BCR::ABL1 kinase domain mutations in Vietnamese chronic myeloid leukemia patients.

Dung PC et al.

Leukemia Research Reports, 2025

BCR::ABL1 kinase domain mutations and their predictive value for treatment outcomes in patients with chronic myeloid leukemia treated with first-line imatinib in a low-income setting: Experience from Côte d'Ivoire.

Koffi KG et al.

Leukemia Research Reports, 2025

Quantitative detection of T315I mutations of BCR::ABL1 using digital droplet polymerase chain reaction.

Mu H et al.

Hematology, Transfusion and Cell Therapy, 2024

A Novel Next-Generation Sequencing Assay for the Identification of BCR::ABL1 Transcript Type and Accurate and Sensitive Detection of TKI-Resistant Mutations.

Yan Z et al.

The Journal of Applied Laboratory Medicine, 2024

Impact of BCR::ABL1 single nucleotide variants on asciminib efficacy.

Innes AJ et al.

Leukemia, 2024

Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.

Kuek WCD et al.

Molecular Genetics & Genomic Medicine, 2024

A Retrospective Analysis of BCR-ABL-1 Kinase Domain Mutations in Frontline TKI Resistant Chronic Myeloid Leukemia Patients: A Single Centre Experience.

Datta G et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.

Zheng Q et al.

Nature Chemical Biology, 2024

38443470 (PubMed )
Supplement: 41589_2024_1565_MOESM1_ESM.pdf

Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.

Chaudhary P et al.

Scientific Reports, 2024

Cytogenetics and genomics in CML and other myeloproliferative neoplasms.

Kreipe HH et al.

Best Practice & Research. Clinical Haematology, 2024

Unstable major molecular response as a trigger for next generation sequencing-based BCR::ABL1 mutation testing in chronic myeloid leukemia.

Benesova A et al.

American Journal of Hematology, 2024

A Retrospective Analysis of BCR-ABL1 Kinase Domain Mutations in the Frontline Drug Intolerant or Resistant Chronic Myeloid Leukemia Patients: An Indian Experience from a High-End Referral Laboratory.

Majumdar A et al.

South Asian Journal of Cancer, 2024

In vitro evidence of synergistic efficacy with asciminib combined with reduced dose of ATP-binding pocket tyrosine kinase inhibitors according to the ABL1 kinase domain mutation profile.

Han HJ et al.

Leukemia, 2024

Combinatorial treatment options for highly resistant compound mutations in the kinase domain of the BCR::ABL1 fusion gene in Ph-positive leukemias.

Sponseiler I et al.

American Journal of Hematology, 2024

BCR-ABL kinase domain mutations in CML patients, experience from a tertiary care center in North India.

S A et al.

Leukemia Research Reports, 2024

BCR::ABL1 kinase domain mutation testing and clinical outcome in a nationwide chronic myeloid leukemia patient population.

Kockerols C et al.

European Journal of Haematology, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Genetic alterations in the BCR-ABL1 fusion gene related to imatinib resistance in chronic myeloid leukemia.

Martínez-Castillo M et al.

Leukemia Research, 2023

Chronic myeloid leukemia kinase domain mutations: A retrospective descriptive study on the therapeutic and prognostic significance in patients at King Edward VIII Hospital, KwaZulu-Natal, South Africa.

Benjamin C et al.

Health Science Reports, 2023

Molecular BCR::ABL1 Quantification and ABL1 Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study.

Marin AM et al.

International Journal of Molecular Sciences, 2023

Spectrum of BCR-ABL mutations in Azerbaijanian imatinib-resistant patients with chronic myeloid leukemia.

Hasanova A et al.

Pathology Oncology Research : Por, 2023

Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.

Sánchez R et al.

Scientific Reports, 2022

Integrated genomic sequencing in myeloid blast crisis chronic myeloid leukemia (MBC-CML), identified potentially important findings in the context of leukemogenesis model.

Kazemi-Sefat GE et al.

Scientific Reports, 2022

P-Loop mutations-Negative prognosticators in tyrosine kinase inhibitors resistant chronic myeloid leukemia patients.

Kaleem B et al.

International Journal of Laboratory Hematology, 2022

Spectrum of BCR-ABL Mutations and Treatment Outcomes in Ethiopian Imatinib-Resistant Patients With Chronic Myeloid Leukemia.

Tadesse F et al.

Jco Global Oncology, 2021

Landscape of drug-resistance mutations in kinase regulatory hotspots.

Kim P et al.

Briefings in Bioinformatics, 2021

In-vitro modeling of TKI resistance in the high-risk B-cell acute lymphoblastic leukemia fusion gene RANBP2-ABL1 - implications for targeted therapy.

Heatley SL et al.

Leukemia & Lymphoma, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Next-generation sequencing improves BCR-ABL1 mutation detection in Philadelphia chromosome-positive acute lymphoblastic leukaemia.

Soverini S et al.

British Journal of Haematology, 2021

ABL Kinase Domain Mutations in Iranian Chronic Myeloid Leukemia Patients with Resistance to Tyrosine Kinase Inhibitors.

Shojaei M et al.

Laboratory Medicine, 2021

Somatic Mutations in Oncogenes Are in Chronic Myeloid Leukemia Acquired De Novo via Deregulated Base-Excision Repair and Alternative Non-Homologous End Joining.

Curik N et al.

Frontiers in Oncology, 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

[Evolvement of a five-way translocation t(5;9;22;6;17) from a four-way Philadelphia translocation t(5;9;22;6) in a rare case of chronic myeloid leukemia].

Kong S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Discovery and Protein Modeling Studies of Novel Compound Mutations Causing Resistance to Multiple Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia.

Iqbal Z et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

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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."