Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Ser (p.G719S)
(
ENST00000275493.7,
ENST00000455089.5,
ENST00000450046.2 )
EGFR p.Gly719Arg (p.G719R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Cys (p.G719C) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Ser (p.G719S) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Arg (p.G719R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Gly719Cys (p.G719C) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- colon carcinoma
- Source Database
- DisGeNET
- Description
- Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the colon cancer-derived G719S and G724S mutants are responsive to cetuximab therapy in vitro and found that the requirement for asymmetric dimerization of these mutant EGFR to promote cellular transformation may explain their greater inhibition by cetuximab than small-molecule kinase inhibitors.
- Pubmed
- 24894453
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0252440941034682
- Year of publication
- 2014
Drugs