VHL V166F - Gene Variant Detail

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Gene VHL
Variant V166F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL V166F lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). V166F results in reduced binding to elongin B and Cul2 in cell culture (PMID: 10587522), and therefore, is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL V166F

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Transcript NM_000551.4
gDNA chr3:g.10149819G>T
cDNA c.496G>T
Protein p.V166F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10149819G>T c.496G>T p.V166F RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149819G>T c.496G>T p.V166F 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL V166F 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 V166F in culture (PMID: 36329119). 36329119