Annotation Detail

Information
Associated Genes
AKT1
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
melanoma
Source Database
CIViC Evidence
Description
A cell line with AKT E17K mutation was found to be sensitive to AKT inhibition with GSK2141795B in this study.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/707
Gene URL
https://civic.genome.wustl.edu/links/genes/2
Variant URL
https://civic.genome.wustl.edu/links/variants/4
Rating
2
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Uprosertib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24735930
Drugs
Drug NameSensitivitySupported
UprosertibSensitivitytrue