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
Carcinoma of bladder
Source Database
DisGeNET
Description
AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation that can co-operate with E17K.
Pubmed
19802009
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00488595369744546
Year of publication
2010
Drugs