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Gene VHL
Variant R167W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL R167W does not lie within any known functional domains of the Vhl protein (UniProt.org). R167W confers a loss of function to the Vhl protein as demonstrated by decreased binding to Elongin BC and Cul2 (PMID: 9122164, PMID: 9651579) and impaired ubiquitination and degradation of Esr1 (ER-alpha) in cultured cells (PMID: 23159849).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL R167W

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Transcript NM_000551.4
gDNA chr3:g.10149822C>T
cDNA c.499C>T
Protein p.R167W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10149822C>T c.499C>T p.R167W RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149822C>T c.499C>T p.R167W RefSeq GRCh38/hg38
NM_000551 chr3:g.10149822C>T c.499C>T p.R167W 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References