Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.K247R
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ABL1

NM_005157.6:p.K247R

Associated Papers

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

41035777 (PubMed )
Supplement: mmc1.pdf

Characterizing Variants of Uncertain Drug Resistance (VUDRs) Using Quantitative Measurements at Clinical Exposures.

Inam H et al.

Biorxiv : the Preprint Server for Biology, 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_S5

Efficacy of ATR Kinase Inhibitor Elimusertib Monotherapy or Combination in Tumors with DNA Damage Response Pathway and Other Genomic Alterations.

Varadarajan K et al.

Molecular Cancer Therapeutics, 2025

40300249 (PubMed )
Supplement: mct-24-0884_supplementary_table_3_suppst3.pdf

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK5_het

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

Chaudhary P et al.

Scientific Reports, 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

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

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

Schaal W et al.

Cancer Informatics, 2022

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.

Schejbel L et al.

Molecular Diagnosis & Therapy, 2021

Molecular Profiling of Merkel Cell Polyomavirus-Associated Merkel Cell Carcinoma and Cutaneous Melanoma.

Mokánszki A et al.

Diagnostics (basel, Switzerland), 2021

Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies.

Hayette S et al.

Hemasphere, 2021

33880432 (PubMed )
Supplement: hs9-5-e522-s003.pdf

Next-generation sequencing for BCR-ABL1 kinase domain mutation testing in patients with chronic myeloid leukemia: a position paper.

Soverini S et al.

Journal of Hematology & Oncology, 2019

Acinar cell carcinoma of the pancreas with thyroid-like follicular features: first description of a new diagnostic challenging subtype.

Saglietti C et al.

Virchows Archiv : an International Journal of Pathology, 2019

Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Schumacher D et al.

Plos Genetics, 2019

30925167 (PubMed )
Supplement: pgen.1008076.s007.xlsx › S2_Table

Single-Molecule Sequencing Reveals Patterns of Preexisting Drug Resistance That Suggest Treatment Strategies in Philadelphia-Positive Leukemias.

Schmitt MW et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Comparison of Frequency and Sensitivity of BCR-ABL1 Kinase Domain Mutations in Asian and White Patients With Imatinib-resistant Chronic-Phase Chronic Myeloid Leukemia.

Kim H et al.

Clinical Lymphoma, Myeloma & Leukemia, 2018

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Jiang J et al.

Journal of Personalized Medicine, 2018

Mutational analysis in BCR-ABL1 positive leukemia by deep sequencing based on nanopore MinION technology.

Minervini CF et al.

Experimental and Molecular Pathology, 2017

The use of Imatinib resistance mutation analysis to direct therapy in Philadelphia chromosome/BCR-ABL1 positive chronic myeloid leukaemia patients failing Imatinib treatment, in Patan Hospital, Nepal.

Kayastha GK et al.

British Journal of Haematology, 2017

Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor.

Konstantinova AM et al.

Annals of Diagnostic Pathology, 2017

Resistance to imatinib in patients with chronic myelogenous leukemia and the splice variant BCR-ABL1(35INS).

Berman E et al.

Leukemia Research, 2016

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

de Leng WW et al.

Plos One, 2016

26919633 (PubMed )
Supplement: pone.0149405.s010.xlsx › testset

A personalised medicine approach for ponatinib-resistant chronic myeloid leukaemia.

Korfi K et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015

25712455 (PubMed )
Supplement: supp_mdv110_mdv110supp.docx

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf

Implications of BCR-ABL1 kinase domain-mediated resistance in chronic myeloid leukemia.

Soverini S et al.

Leukemia Research, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

BCR-ABL1 compound mutations in tyrosine kinase inhibitor-resistant CML: frequency and clonal relationships.

Khorashad JS et al.

Blood, 2013

Chronic myeloid leukemia: clinical impact of BCR-ABL1 mutations and other lesions associated with disease progression.

Ernst T et al.

Seminars in Oncology, 2012

Molecular monitoring and mutation analysis of patients with advanced phase CML and Ph+ ALL receiving dasatinib.

Olsson-Strömberg U et al.

European Journal of Haematology, 2010

Expression of BCR-ABL1 oncogene relative to ABL1 gene changes overtime in chronic myeloid leukemia.

Gupta M et al.

Biochemical and Biophysical Research Communications, 2008

Mutation status and clinical outcome of 89 imatinib mesylate-resistant chronic myelogenous leukemia patients: a retrospective analysis from the French intergroup of CML (Fi(phi)-LMC GROUP).

Nicolini FE et al.

Leukemia, 2006

Mutations in the breakpoint cluster region-Abelson murine leukemia 1 gene in Brazilian patients with chronic myeloid leukemia.

Costa HZ et al.

Hematology, Transfusion and Cell Therapy, 0

Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML.

Banck H et al.

Cancer Genomics & Proteomics, 0

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