Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
KLLN p.Arg128Gly (p.R128G)
(
ENST00000445946.5 )
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.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
- Glioma
- Source Database
- DisGeNET
- Description
- In contrast, ectopic expression of wild type PTEN, but not the PTEN(G129R) mutant, in PTEN-mutant gliomas markedly sensitizes these cells to irradiation and to CD95-ligand (CD95L)-induced apoptosis.
- Pubmed
- 10435616
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.182293179663085
- Year of publication
- 1999
Drugs