Annotation Detail
Information
- Associated Genes
- PIK3CD
- Associated Variants
-
AKT1 p.Glu17Lys (p.E17K)
(
ENST00000402615.6,
ENST00000349310.7,
ENST00000554848.5,
ENST00000555528.5,
ENST00000407796.7,
ENST00000553797.2,
ENST00000554192.6,
ENST00000554581.5,
ENST00000555458.6,
ENST00000649815.2,
ENST00000683722.1,
ENST00000714123.1,
ENST00000714130.1 )
AKT1 p.Glu17Lys (p.E17K) ( ENST00000349310.7, ENST00000402615.6, ENST00000407796.7, ENST00000553797.2, ENST00000554192.6, ENST00000554581.5, ENST00000554848.5, ENST00000555458.6, ENST00000555528.5, ENST00000649815.2, ENST00000683722.1, ENST00000714123.1, ENST00000714130.1 ) - Associated Disease
- leukemia
- Source Database
- DisGeNET
- Description
- The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly, may be therapeutically exploited to target the PI3K pathway.
- Pubmed
- 19461960
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00542883744160607
- Year of publication
- 2009
Drugs