Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu858Arg (p.L858R) ( 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 )
EGFR p.Leu858Arg (p.L858R) ( 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
Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, and L861Q) predict favorable responses to EGFR tyrosine kinase inhibitors (TKIs) in advanced non-small cell lung cancer (NSCLC).
Pubmed
24353160
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.38498181821385
Year of publication
2014
Drugs