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Gene ABL1
Variant E255K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 E255K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255K demonstrates catalytic efficiency (kcat/km) similar to wild-type Abl1 in an in vitro assay (PMID: 30684523), results in increased autophosphorylation and Stat5 phosphorylation in the context of BCR-ABL1, and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 15194504), but has not been fully biochemically characterized and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 E255K

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Transcript NM_005157.6
gDNA chr9:g.130862976G>A
cDNA c.763G>A
Protein p.E255K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130862976G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_007313.2 chr9:g.130862919G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_007313.3 chr9:g.130862919G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130862976G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862976G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_007313 chr9:g.130862919G>A c.763G>A p.E255K RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03874858 Phase II Nilotinib Asciminib + Nilotinib De-escalation and TFR Study in CML Patients Treated With Nilotinib Followed by a Second Attempt After Nilotinib and Asciminib Combination (DANTE) Active, not recruiting ITA 0
NCT04793399 Phase Ib/II Atezolizumab + Bosutinib Safety and Efficacy Evaluation of Bosutinib Plus Atezolizumab in Newly Diagnosed Chronic Leukemia Adult Patients Terminated ESP 0
NCT04160546 Phase II Aspirin + Ponatinib Study to Evaluate the Reinduction and Second Stop of TKI With Ponatinib in CML in Molecular Response (ResToP) (ResToP) Active, not recruiting ESP 0