Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene VHL
Variant W117*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL W117* results in a premature truncation of the Vhl protein at amino acid 117 of 213 (UniProt.org). W117* has not been characterized, however, is associated with resistance to BET inhibitors in culture (PMID: 36329119) and due to the effects of other truncation mutations downstream of W117 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance Y
Category Variants Paths

VHL mutant VHL inact mut VHL W117*

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.

Transcript NM_000551.4
gDNA chr3:g.10146523G>A
cDNA c.350G>A
Protein p.W117*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146523G>A c.350G>A p.W117* RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146523G>A c.350G>A p.W117* RefSeq GRCh38/hg38

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 W117* leukemia resistant ARV-771 Preclinical - Cell culture Actionable In a preclinical study, a leukemia cell line demonstrated resistance to ARV-771 and was found to have acquired VHL W117* in culture (PMID: 36329119). 36329119