Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu861Gln (p.L861Q) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu861Arg (p.L861R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu861Gln (p.L861Q) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu861Arg (p.L861R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
mucoepidermoid carcinoma
Source Database
DisGeNET
Description
EGFR L861Q mutation is a frequent feature of pulmonary mucoepidermoid carcinoma.
Pubmed
22526156
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0054387689632702
Year of publication
2012
Drugs