Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Ser553ThrfsTer7 (p.S553Tfs*7)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Ser553ThrfsTer7 (p.S553Tfs*7) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Gly118Asp (p.G118D) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu135Lys (p.E135K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu218Lys (p.E218K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Val356Ile (p.V356I) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Arg382Lys (p.R382K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Ala (p.E545A) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Gly (p.E545G) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Leu632Ter (p.L632*) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Gly118Asp (p.G118D) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu135Lys (p.E135K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu218Lys (p.E218K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Val356Ile (p.V356I) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Arg382Lys (p.R382K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Ala (p.E545A) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Gly (p.E545G) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Leu632Ter (p.L632*) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Cowden syndrome 5
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs