Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu542Lys (p.E542K)
(
ENST00000643187.1,
ENST00000263967.4 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu542Lys (p.E542K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Oropharyngeal disorders
- Source Database
- DisGeNET
- Description
- PIK3CA mutations were identified by Sanger sequencing in 23 of 75 (31%) HPV-positive oropharyngeal carcinomas, including exon 9 (p.E545K [n = 10] and p.E542K [n = 5]) or exon 20 (p.H1047Y, n = 2) mutations.
- Pubmed
- 24341335
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs