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|Synonyms||CD340 | HER-2 | HER-2/neu | HER2 | MLN 19 | NEU | NGL | TKR1|
|Gene Description||ERBB2 (HER2), erb-b2 receptor tyrosine kinase 2, is an EGFR receptor tyrosine kinase that activates PI3K-AKT-mTOR and RAS-RAF-MEK-ERK pathways, therefore regulating growth and transformation (PMID: 17471238). ERBB2 (HER2) amplification, overexpression, and activation has been implicated in several tumor types (PMID: 17471238).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|L755X||missense||unknown||ERBB2 (HER2) L755X indicates any ERBB2 (HER2) missense mutation that results in the leucine (L) at amino acid 755 being replaced by a different amino acid.|
|act mut||unknown||gain of function||ERBB2 (HER2) act mut indicates that this variant results in a gain of function in the Erbb2 (Her2) protein. However, the specific amino acid change has not been identified.|
|exon 20 ins||insertion||unknown||ERBB2 (HER2) exon 20 insertions are in-frame insertions within the kinase domain of Erbb2 (Her2) (PMID: 16843263). Exon 20 insertions may result in in increased Erbb2 (Her2) kinase activity, and are associated with low sensitivity to Egfr tyrosine kinase inhibitors (PMID: 16843263).|
|exon20||unknown||unknown||ERBB2 (HER2) exon 20 indicates an unspecified mutation has occurred in exon 20 of the ERBB2 (HER2) gene.|
|fusion||fusion||unknown||ERBB2 (HER2) fusion indicates a fusion of the ERBB2 (HER2) gene, but the fusion partner is unknown.|
|mutant||unknown||unknown||ERBB2 (HER2) mutant indicates an unspecified mutation in the ERBB2 (HER2) gene.|