VHL S65L - Gene Variant Detail

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Gene VHL
Variant S65L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL S65L does not lie within any known functional domains of the Vhl protein (UniProt.org). S65L confers a loss of function to the Vhl protein as demonstrated by impaired binding to Hif1a in an in vitro assay and failure to mediate Hif2a degradation in cultured cells (PMID: 15611064).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S65L

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Transcript NM_000551.4
gDNA chr3:g.10142041C>T
cDNA c.194C>T
Protein p.S65L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_198156 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_000551 chr3:g.10142041C>T c.194C>T p.S65L RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142041C>T c.194C>T p.S65L 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
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries