VHL L158Q - Gene Variant Detail

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Gene VHL
Variant L158Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL L158Q lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). L158Q retains the ability to bind and ubiquitinate Hif1a in an in vitro assay (PMID: 26503325), however, is predicted to lead to a loss of Vhl protein function as demonstrated by decreased Elongin C binding and increased ubiquitination by Ube2s leading to reduced Vhl protein stability and impaired regulation of Hif target genes and cell proliferation in culture (PMID: 26503325).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL L158Q

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Transcript NM_000551.4
gDNA chr3:g.10149796T>A
cDNA c.473T>A
Protein p.L158Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149796T>A c.473T>A p.L158Q RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149796T>A c.473T>A p.L158Q RefSeq GRCh38/hg38
NM_000551 chr3:g.10149796T>A c.473T>A p.L158Q 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