Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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_007313.2 | chr9:g.130872144G>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 |
| NM_005157 | chr9:g.130872201G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130872201G>C | c.895G>C | p.V299L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|