Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Leu858Arg (p.L858R) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
Recently, frequent mutations in the epidermal growth factor receptor (EGFR) have been detected in lung cancer, mainly deletions in exon 19 and L858R mutation in exon 21.
Pubmed
21531084
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.16
Year of publication
2011
Drugs