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Gene VHL
Variant L158S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL L158S lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). L158S confers a loss of function to the Vhl protein as demonstrated by decreased interaction with Elongin B/C and Cul2, decreased inhibition of Glut1 and Vegf expression under normoxic conditions (PMID: 9447969), and increased Hif2a, Glut1, Junb, and Egln3 levels in cultured cells (PMID: 16098468).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL L158S

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Transcript NM_000551.4
gDNA chr3:g.10149795_10149796delCTinsTC
cDNA c.472_473delCTinsTC
Protein p.L158S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10149795_10149796delCTinsTC c.472_473delCTinsTC p.L158S RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149795_10149796delCTinsTC c.472_473delCTinsTC p.L158S RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149795_10149796delCTinsTC c.472_473delCTinsTC p.L158S 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.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries