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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 and/or overexpression, and activation has been implicated in several tumor types (PMID: 17471238, PMID: 31019892), and is commonly observed in breast cancer (PMID: 31650186, PMID: 32161378), while some ERBB2 mutations have been implicated in resistance to select tyrosine kinase inhibitors (PMID: 32327210).|
|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 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.|
|rearrange||unknown||unknown||ERBB2 rearrange indicates an unspecified rearrangement of the ERBB2 gene.|
|G1041fs||frameshift||unknown||ERBB2 (HER2) G1041fs results in a change in the amino acid sequence of the Erbb2 (Her2) protein beginning at aa 1041 of 1255, likely resulting in premature truncation of the functional protein (UniProt.org). G1041fs has not been characterized in the scientific literature and therefore, its effect on Erbb2 (Her2) protein function is unknown (PubMed, Apr 2020).|