VHL L169P - Gene Variant Detail

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Gene VHL
Variant L169P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL L169P does not lie within any known functional domains of the Vhl protein (UniProt.org). L169P retains the ability to degrade Hif1a and results in hypoxia regulation and protein stability similar to wild-type Vhl in culture in one study (PMID: 37069149), but results in a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay in another study (PMID: 38969834), and therefore, its effect on Vhl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL L169P

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Transcript NM_000551.4
gDNA chr3:g.10149829T>C
cDNA c.506T>C
Protein p.L169P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149829T>C c.506T>C p.L169P RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149829T>C c.506T>C p.L169P RefSeq GRCh38/hg38
NM_000551 chr3:g.10149829T>C c.506T>C p.L169P 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