Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.E255V
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ABL1

NM_005157.6:p.E255V

Associated Papers

Chronic Myeloid Leukemia and the T315I BCR::ABL1 Mutation.

Pierro F et al.

International Journal of Molecular Sciences, 2025

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_S6

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

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

Rare Atypical Ela3 BCR-ABL transcript in acute Lymphoblastic Leukemia: a case report.

Xu L et al.

African Health Sciences, 2025

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

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

Kamizela AE et al.

Nature, 2025

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 › mutation_information.xlsx › ABL1_KD__mutations

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

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

38915726 (PubMed )
Supplement: media-2.pdf

Prediction of Conformational Ensembles and Structural Effects of State-Switching Allosteric Mutants in the Protein Kinases Using Comparative Analysis of AlphaFold2 Adaptations with Sequence Masking and Shallow Subsampling.

Raisinghani N et al.

Biorxiv : the Preprint Server for Biology, 2024

Concomitant L248V With E225V Mutation in the BCR-ABL Gene Associated With Rapid Chronic Myeloid Leukemia Lymphoid Blast Crisis.

Tungjitviboonkun S et al.

Cureus, 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

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

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

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

A customized mass array panel for BCR::ABL1 tyrosine kinase domain mutation screening in chronic myeloid leukemia.

Limsuwanachot N et al.

Journal of Mass Spectrometry and Advances in the Clinical Lab, 2023

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

Hasanova A et al.

Pathology Oncology Research : Por, 2023

Droplet digital PCR for the detection of second-generation tyrosine kinase inhibitor-resistant BCR::ABL1 kinase domain mutations in chronic myeloid leukemia.

Soverini S et al.

Leukemia, 2022

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

Sánchez R 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

Development of asciminib, a novel allosteric inhibitor of BCR-ABL1.

Réa D et al.

Critical Reviews in Oncology/hematology, 2022

Evaluation of cytogenetic response in CML patients with variant Philadelphia translocation.

Shetty D et al.

Asia-pacific Journal of Clinical Oncology, 2022

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening.

Schaal W et al.

Cancer Informatics, 2022

Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data.

Popitsch N et al.

Bioinformatics (oxford, England), 2021

The role of E255K/V-inclusive mutations in a Philadelphia-positive acute lymphoblastic leukemia with mutation evolution during sequential TKIs therapies: A case report.

Zhao M et al.

Medicine, 2021

33950935 (PubMed )
Supplement: medi-100-e25579-s003.doc

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

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutation_in_Australian_cohort

Phosphorylation and Driver Mutations in PI3Kα and PTEN Autoinhibition.

Nussinov R et al.

Molecular Cancer Research : Mcr, 2021

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

Soverini S et al.

British Journal of Haematology, 2021

A Review of Molecular and Genetic Diagnostics of Myeloid Malignancies with Emphasis on Diagnostics in Bosnia and Herzegovina.

Kurtovic-Kozaric A et al.

Acta Medica Academica, 2021

Outgrowth of a CSF3R-mutant clone drives a second myeloproliferative neoplasm in a chronic myeloid leukemia patient: a case report.

Carratt SA et al.

Biomarker Research, 2021

Mutational spectrum and precision oncology for biliary tract carcinoma.

Lin J et al.

Theranostics, 2021

33754015 (PubMed )
Supplement: thnov11p4585s1.pdf

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

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