Gene Variant Detail

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Gene VHL
Variant F136L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL F136L lies within the CCT complex-binding region and the aromatic tetrahedron core domain of the Vhl protein (UniProt.org, PMID: 23840444). F136L 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 P136L leads to a lethal phenotype in animal models (PMID: 30194449).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL F136L

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Transcript NM_000551.4
gDNA chr3:g.10146579T>C
cDNA c.406T>C
Protein p.F136L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10146579T>C c.406T>C p.F136L RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146579T>C c.406T>C p.F136L RefSeq GRCh38/hg38
NM_000551 chr3:g.10146579T>C c.406T>C p.F136L 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
VHL F136L loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor