Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
- ABL1 p.Glu274Lys (p.E274K) ABL1 p.Glu274Lys (p.E274K)
- Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- A panel of 16 mutations seen in imatinib CML patents were used to evaluate the effectiveness of drug binding. All mutations were compared with non-mutated BCR-ABL protein and evaluated for anti-proliferative activity and substrate or auto-phosphorylation assays. The E255K mutation was resistant to imatinib (20-fold IC50 increase for the proliferation assay).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2661
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/3
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 15930265
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |