VHL W117*
Gene Variant Detail

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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*

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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_000551.4 chr3:g.10146523G>A c.350G>A p.W117* RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146523G>A c.350G>A p.W117* RefSeq GRCh38/hg38

Filtering

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  • 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")

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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