Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.Y253H
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ABL1

NM_005157.6:p.Y253H

Associated Papers

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

Oehler VG et al.

Leukemia, 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

Heat stress targets and degrades BCR::ABL1 oncoproteins to overcome drug-resistance in Philadelphia chromosome-positive acute lymphoblastic leukemia.

Yang C et al.

Leukemia, 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

Comprehensive analysis of tyrosine kinase domain mutations and imatinib resistance in chronic myeloid leukemia patients.

Dhangar S et al.

Leukemia Research, 2025

Advancing chronic myeloid leukemia research with next-generation sequencing: potential benefits, limitations, and future clinical integration.

Sutanto H et al.

Human Genetics, 2025

Allele-Specific PCR for Detection of Missense Mutations in the Chimeric BCR::ABL1 Gene Causing Failure of Tyrosine Kinase Inhibitor Therapy in CML Patients.

Skripkina A et al.

International Journal of Molecular Sciences, 2025

Timing and trajectory of BCR::ABL1-driven chronic myeloid leukaemia.

Kamizela AE et al.

Nature, 2025

Genetic Profiling of Acute and Chronic Leukemia via Next-Generation Sequencing: Current Insights and Future Perspectives.

Pratiwi L et al.

Hematology Reports, 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

Asciminib resistance of a new BCR::ABL1 p.I293_K294insSSLRD mutant detected in a Ph + ALL patient.

Cullot G et al.

Annals of Hematology, 2025

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

Dung PC et al.

Leukemia Research Reports, 2025

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

Navas-Acosta J et al.

Cancers, 2024

Occurrence of Existing BCR-ABL Baseline Mutations and Associated Haplotype (NmR) Among CML Patients with Diverse IM Response: A Hospital-based Study from North-East India.

Hazarika G et al.

Biochemical Genetics, 2024

Identification of novel BCR::ABL1 kinase domain mutation in patients with chronic myeloid leukaemia and imatinib resistance.

Yusoff YM et al.

The Malaysian Journal of Pathology, 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

New ABL1 Kinase Domain Mutations in BCR::ABL1-Positive Acute Lymphoblastic Leukemia.

Li Z et al.

Cancer Medicine, 2024

39440695 (PubMed )
Supplement: CAM4-13-e70317-s001.zip › Supplemental_Materials.docx

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

[Fluorescence Quantitative PCR Detection of ABL1 Kinase Region Mutations].

Cheng HC et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2024

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

Chaudhary P et al.

Scientific Reports, 2024

Mutation and cell state compatibility is required and targetable in Ph+ acute lymphoblastic leukemia minimal residual disease.

Winter PS et al.

Biorxiv : the Preprint Server for Biology, 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

Characterization of Asciminib-Resistant Philadelphia Chromosome-Positive Cells.

Okabe S et al.

World Journal of Oncology, 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

Novel Biomarkers and Molecular Targets in ALL.

De Sa H et al.

Current Hematologic Malignancy Reports, 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

Chronic myeloid leukemia with involvement of membranous labyrinth.

Kettani ME 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

Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention.

Shanmuganathan N et al.

Haematologica, 2023

Droplet digital polymerase chain reaction improves the detection of BCR-ABL1 kinase domain mutation in Philadelphia chromosome-positive acute lymphoblastic leukemia.

Wan L et al.

International Journal of Laboratory Hematology, 2023

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

Next-generation sequencing-based analysis to assess the pattern of relapse in patients with Philadelphia-positive acute lymphoblastic leukemia.

Ahn JS et al.

Ejhaem, 2022

36467841 (PubMed )
Supplement: JHA2-3-1145-s002.xlsx › Sheet2
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