Gene Variant Detail

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Gene VHL
Variant loss
Impact List unknown
Protein Effect loss of function
Gene Variant Descriptions VHL loss indicates loss of the VHL gene, mRNA and protein.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL loss

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL loss renal cell carcinoma sensitive Bevacizumab Preclinical Actionable In a preclinical study, clear cell renal cell carcinoma xenograft models with VHL loss demonstrated sensitivity to Avastin (bevacizumab) (PMID: 22931246). 22931246
VHL loss renal cell carcinoma sensitive ELR510444 Preclinical - Cell line xenograft Actionable In a preclinical study, renal cell carcinoma cells deficient for VHL were sensitive to ELR510444 both in culture and in cell line xenograft models (PMID: 22295124). 22295124
VHL loss renal cell carcinoma sensitive BPTES Preclinical - Cell culture Actionable In a preclinical study, VHL-deficient renal cell carcinoma cells demonstrated growth inhibition and suppression of DNA synthesis in culture when treated with BPTES (PMID: 28346230). 28346230
VHL loss renal cell carcinoma sensitive Telaglenastat Preclinical - Cell culture Actionable In a preclinical study, VHL-deficient renal cell carcinoma cells demonstrated growth inhibition in culture when treated with CB-839 (PMID: 28346230). 28346230
VHL loss renal cell carcinoma sensitive Olaparib + Telaglenastat Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of CB-839 and Lynparza (olaparib) resulted in a synergistic effect, demonstrating greater reduction in tumor volume compared to either agent alone in renal carcinoma cell xenograft models deficient for VHL (PMID: 28346230). 28346230
VHL loss renal cell carcinoma sensitive BPTES + Olaparib Preclinical - Cell culture Actionable In a preclinical study, the combination of BPTES and Lynparza (olaparib) resulted in a synergistic effect, demonstrating growth inhbition of VHL-deficient renal cell carcinoma cells in culture (PMID: 28346230). 28346230