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
Malignant neoplasm of lung
Source Database
DisGeNET
Description
The AKT1 (E17K) mutation has been reported in some tumour types (breast, colorectal, ovarian and lung cancers), and it is of interest which tumour types other than those possess the E17K mutation.
Pubmed
19491896
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0189685934372187
Year of publication
2009
Drugs