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|Synonyms||ALS19 | HER4 | p180erbB4|
|Gene Description||ERBB4, erb-b2 receptor tyrosine kinase 4, encodes HER4, an ERBB family member that plays a role in cell survival and differentiation (PMID: 12648466). ERBB4 activating mutations are frequent in melanoma and have been demonstrated in lung adenocarcinoma (PMID: 19718025, PMID: 26050618).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||ERBB4 (HER4) act mut indicates that this variant results in a gain of function in the Erbb4 (Her4) protein. However, the specific amino acid change has not been identified.|
|inact mut||unknown||loss of function||ERBB4 inact mut indicates that this variant results in a loss of function of the Erbb4 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||ERBB4 mutant indicates an unspecified mutation in the ERBB4 gene.|
|T480fs||frameshift||loss of function - predicted||ERBB4 T480fs results in a change in the amino acid sequence of the Erbb4 protein beginning at aa 480 of 1308, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T480fs is predicted to lead to a loss of Erbb4 function.|