Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
KLLN p.Arg128Gly (p.R128G)
(
ENST00000445946.5 )
PTEN p.Gly129Glu (p.G129E) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Gly (p.R130G) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Ter (p.R130*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
KLLN p.Arg128Gly (p.R128G) ( ENST00000445946.5 )
PTEN p.Gly129Glu (p.G129E) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Gly (p.R130G) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 )
PTEN p.Arg130Ter (p.R130*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- Adenocarcinoma of lung (disorder)
- Source Database
- DisGeNET
- Description
- Therefore, we created a tetracycline inducible expression system of wild-type PTEN (PTEN-WT) as well as catalytically (PTEN-G129R) and lipid phosphatase (PTEN-G129E) inactive PTEN mutants using the PC14, PC9 and PC3 lung adenocarcinoma cell lines, in which endogenous PTEN expression was not detected and AKT at Ser473 was phosphorylated by Western blot analysis.
- Pubmed
- 21333374
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2011
Drugs