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
Non-small cell lung carcinoma
Source Database
DisGeNET
Description
Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon EGFR mutations G719X and L861Q.
Pubmed
24419415
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.38498181821385
Year of publication
2014
Drugs