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 ovary
Source Database
DisGeNET
Description
Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorectal, lung and ovarian cancers.
Pubmed
18504432
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0119434423715333
Year of publication
2008
Drugs