VHL S65W
Gene Variant Detail

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Gene VHL
Variant S65W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL S65W does not lie within any known domains of the Vhl protein (UniProt.org). S65W confers a loss of function to the Vhl protein as demonstrated by impaired binding to Hif1a in an in vitro assay (PMID: 15611064), failure to mediate Hif2a degradation (PMID: 15611064, PMID: 35505422), and increased migration and invasion in cell culture (PMID: 35505422), and a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay (PMID: 38969834).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S65W

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Transcript NM_000551.4
gDNA chr3:g.10142041C>G
cDNA c.194C>G
Protein p.S65W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_198156 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142041C>G c.194C>G p.S65W 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 Protein Effect Treatment Approaches
VHL S65W loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor