Gene Variant Detail

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Gene VHL
Variant S183L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL S183L does not lie within any known functional domains of the Vhl protein (UniProt.org). S183L confers a loss of function to the Vhl protein as indicated by decreased Vhl protein stability, impaired ability to regulate Hif1a degradation, and increased expression of Hif1a target genes in cultured cells (PMID: 21454469).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S183L

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Transcript NM_000551.4
gDNA chr3:g.10149871C>T
cDNA c.548C>T
Protein p.S183L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10149871C>T c.548C>T p.S183L RefSeq GRCh38/hg38
NM_000551 chr3:g.10149871C>T c.548C>T p.S183L RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149871C>T c.548C>T p.S183L 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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Molecular Profile Protein Effect Treatment Approaches
VHL S183L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor