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|Protein Effect||loss of function - predicted|
|Gene Variant Descriptions||VHL L188V does not lie within any known functional domains of the Vhl protein (UniProt.org). L188V demonstrates similar regulation of HIF-alpha, Glut1, and cyclin D1 to wild-type Vhl (PMID: 16452184, PMID: 17526729, PMID: 11331612), and has been demonstrated to both promote (PMID: 16452184) and suppress (PMID: 11331612) tumor formation; however, results in disrupted fibronectin matrix assembly (PMID: 11331612, PMID: 16452184) and elevated Rwdd3 (Rsume), Prkcz (aPKC), and Junb levels in cultured cells (PMID: 16098468, PMID: 30890701), and increased tumor vascularization compared to controls in mouse models (PMID: 16452184), and therefore, is predicted to lead to a loss of Vhl protein function.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|