VHL F119L
Gene Variant Detail

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Gene VHL
Variant F119L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL F119L lies within the CCT complex-binding region and the aromatic tetrahedron core domain of the Vhl protein (UniProt.org, PMID: 23840444). F119L results in decreased Vhl protein stability as compared to wild-type, demonstrating increased misfolding and aggregation of Vhl protein in in-vitro assays (PMID: 23840444), and reduced solubility and decreased binding to Hif1a protein, and overexpression of P119L leads to a lethal phenotype in animal models (PMID: 30194449).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL F119L

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Transcript NM_000551.4
gDNA chr3:g.10146528T>C
cDNA c.355T>C
Protein p.F119L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146528T>C c.355T>C p.F119L RefSeq GRCh38/hg38
NM_000551 chr3:g.10146528T>C c.355T>C p.F119L RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146528T>C c.355T>C p.F119L 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References