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| Gene | ABL1 |
| Variant | V299L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 V299L lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 V299L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 18242697, PMID: 23086624, PMID: 30419862), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ABL1 mutant ABL1 V299L |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130872201G>C |
| cDNA | c.895G>C |
| Protein | p.V299L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157 | chr9:g.130872201G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| NM_007313.2 | chr9:g.130872144G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130872201G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| NM_007313.3 | chr9:g.130872144G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| NM_005157.6 | chr9:g.130872201G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| NM_007313 | chr9:g.130872144G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT02228382 | FDA approved | Bosutinib | Safety And Efficacy Study Of Bosutinib In Patients With Philadelphia Chromosome Positive Chronic Myeloid Leukemia Previously Treated With One Or More Tyrosine Kinase Inhibitors | Terminated | USA | SWE | NOR | ITA | FRA | ESP | DEU | AUT | 0 |
| NCT03106779 | Phase III | Bosutinib Asciminib | Study of Efficacy of CML-CP Patients Treated With ABL001 Versus Bosutinib, Previously Treated With 2 or More TKIs | Completed | USA | TUR | ROU | NLD | LBN | ITA | ISR | HUN | GBR | FRA | ESP | DEU | CZE | CHE | CAN | BRA | BGR | AUS | ARG | 6 |
| NCT01593254 | Phase II | Imatinib Dasatinib | Study of Dasatinib vs Imatinib in Patients With Chronic Myeloid Leukemia (CML) Who Did Not Have Favorable Response to Imatinib (DASCERN) | Completed | USA | POL | ITA | HUN | FRA | ESP | CZE | CAN | BRA | BEL | AUT | ARG | 3 |