Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
Mammary Neoplasms
Source Database
DisGeNET
Description
We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple histological types.
Pubmed
22370636
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.171032036210879
Year of publication
2013
Drugs