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Gene | ABL1 |
Variant | E255V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 E255V lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255V results in decreased enzymatic efficiency (kcat/Km) in an in vitro assay (PMID: 30684523), and has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 15710326), 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 E255V |
Transcript | NM_005157.6 |
gDNA | chr9:g.130862977A>T |
cDNA | c.764A>T |
Protein | p.E255V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130862977A>T | c.764A>T | p.E255V | RefSeq | GRCh38/hg38 |
NM_007313.3 | chr9:g.130862920A>T | c.764A>T | p.E255V | RefSeq | GRCh38/hg38 |
NM_007313.2 | chr9:g.130862920A>T | c.764A>T | p.E255V | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130862977A>T | c.764A>T | p.E255V | RefSeq | GRCh38/hg38 |
NM_007313 | chr9:g.130862920A>T | c.764A>T | p.E255V | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130862977A>T | c.764A>T | p.E255V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
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 |
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 |