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|Synonyms||CD309 | FLK1 | VEGFR | VEGFR2|
|Gene Description||KDR (VEGFR2), kinase insert domain receptor, is also known as vascular endothelial growth factor receptor 2 and is an endothelial cell surface receptor tyrosine kinase and member of the vascular endothelial growth factor family of proteins that plays a role in angiogenesis and cell proliferation through activation of RAF-MEK-MAP and PI3K-AKT pathways (PMID: 25568876, PMID: 29093528, PMID: 26578684). KDR amplification and overexpression have been reported in a variety of tumor types (PMID: 21382095, PMID: 27218826, PMID: 25231439, PMID: 20606037, PMID: 30819137) and somatic mutations have been reported in sarcomas and head and neck squamous cell carcinomas (PMID: 22314185, PMID: 11801954).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||KDR act mut indicates that this variant results in a gain of function in the Kdr (Vegfr2) protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||KDR mutant indicates an unspecified mutation in the KDR (VEGFR2) gene.|
|L371fs||frameshift||unknown||KDR (VEGFR2) L371fs results in a change in the amino acid sequence of the Kdr protein beginning at aa 371 of 1356, likely resulting in premature truncation of the functional protein (UniProt.org). L371fs has been identified in sequencing studies (PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Jul 2020).|
|P453fs||frameshift||unknown||KDR (VEGFR2) P453fs results in a change in the amino acid sequence of the Kdr (Vegfr2) protein beginning at aa 453 of 1356, likely resulting in premature truncation of the functional protein (UniProt.org). P453fs has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kdr (Vegfr2) protein function is unknown (PubMed, Aug 2020).|