Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Ile654Leu (p.I654L)
(
ENST00000541774.5,
ENST00000584450.5,
ENST00000445658.6,
ENST00000406381.6,
ENST00000269571.10,
ENST00000584601.5 )
ERBB2 p.Ile654Val (p.I654V) ( ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000269571.10 )
ERBB2 p.Ile655Val (p.I655V) ( ENST00000445658.6, ENST00000584601.5, ENST00000541774.5, ENST00000584450.5, ENST00000269571.10, ENST00000406381.6 )
ERBB2 p.Ile655Phe (p.I655F) ( ENST00000445658.6, ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000269571.10, ENST00000541774.5 )
ERBB2 p.Ile654Leu (p.I654L) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Ile654Val (p.I654V) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Ile655Val (p.I655V) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
ERBB2 p.Ile655Phe (p.I655F) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- Carcinogenesis
- Source Database
- DisGeNET
- Description
- Ile/Ile homozygosity at codon 655 of HER2 in schwannoma may imply some role in tumorigenesis of Ile655Val allele of HER2 in this nerve tumor.
- Pubmed
- 22315174
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.168859536974455
- Year of publication
- 2011
Drugs