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|Protein Effect||loss of function - predicted|
|Gene Variant Descriptions||VHL V155A lies within the CCT complex-binding region of the Vhl protein (UniProt.org). V155A retains the ability to bind the Elongin BC complex and ubiquitinate Hif1a in in vitro assays (PMID: 26503325), however, is predicted to result in a loss of Vhl protein function as demonstrated by increased ubiquitination by Ube2s leading to reduced Vhl protein stability and impaired ability to adequately regulate Hif protein expression and activity in in vitro assays and cell culture (PMID: 26503325).|
|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|
|Molecular Profile||Protein Effect||Treatment Approaches|
|VHL V155A||loss of function - predicted|