Annotation Detail

Information
Associated Genes
ERBB2
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
breast carcinoma
Source Database
DisGeNET
Description
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia.
Pubmed
19636371
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.08
Year of publication
2009
Drugs