Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Val769Met (p.V769M) ( ENST00000455089.5, ENST00000275493.7, ENST00000450046.2 )
EGFR p.Val769Leu (p.V769L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val769Leu (p.V769L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Ser768Ile (p.S768I) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val769Met (p.V769M) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val769Leu (p.V769L) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Val769Leu (p.V769L) ( ENST00000455089.5, ENST00000275493.7, ENST00000450046.2 )
Associated Disease
Adenocarcinoma of lung (disorder)
Source Database
DisGeNET
Description
Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S768I and V769L.
Pubmed
17045698
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.2
Year of publication
2006
Drugs