Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR p.Arg521Lys (p.R521K) ( ENST00000342916.7, ENST00000344576.7, ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Arg521Thr (p.R521T) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Met (p.R521M) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Lys (p.R521K) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Thr (p.R521T) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Met (p.R521M) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
The EGFR R521K polymorphism influences the risk to develop colorectal cancer.
Pubmed
21896992
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2010
Drugs