Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu255Lys (p.E255K)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu274Lys (p.E274K) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 )
ABL1 p.Glu255Lys (p.E255K) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Glu274Lys (p.E274K) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 ) - Associated Disease
- leukemia
- Source Database
- DisGeNET
- Description
- The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly associated with mutations in the kinase domain of BCR/ABL, which include the most prevalent mutations E255K and T315I.
- Pubmed
- 15194504
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0892681571309556
- Year of publication
- 2004
Drugs