Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : firstname.lastname@example.org
|Protein Effect||loss of function - predicted|
|Gene Variant Descriptions||VHL L158Q lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). L158Q retains the ability to bind and ubiquitinate Hif1a in an in vitro assay (PMID: 26503325), however, is predicted to lead to a loss of Vhl protein function as demonstrated by decreased Elongin C binding and increased ubiquitination by Ube2s leading to reduced Vhl protein stability and impaired regulation of Hif target genes and cell proliferation in culture (PMID: 26503325).|
|Associated Drug Resistance|
|Category Variants Paths||
VHL mutant VHL inact mut VHL L158Q
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|