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|Protein Effect||gain of function|
|Gene Variant Descriptions||ALK F1245V lies within the protein kinase domain of the Alk protein (UniProt.org). F1245V confers a gain of function to the Alk protein, as it results in increased Alk kinase activity in vitro and leads to transformation activity in cell culture (PMID: 25517749).|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|ALK F1245V||neuroblastoma||predicted - sensitive||Entrectinib||Case Reports/Case Series||Actionable||In a clinical study, combined analysis of 2 Phase I trials showed Rozlytrek (entrectinib) treatment to result in a partial response that lasted 8.3 months in a patient with neuroblastoma harboring ALK F1245V, who remained on treatment for over 3.5 years due to clinical benefit (PMID: 28183697).||28183697|