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Gene VHL
Variant D121G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL D121G lies within the CCT complex-binding region of the Vhl protein (UniProt.org). D121G retains interaction with Cul2, Roc1, Elongin B, and Hif1/2 in culture (PMID: 11865071, PMID: 17967880, PMID: 19030229), however, results in decreased binding to Elongin C (PMID: 19030229, PMID: 11865071) and impaired Vhl nuclear export and degradation of Hif2a in culture (PMID: 17967880), and therefore, is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL D121G

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Transcript NM_000551.4
gDNA chr3:g.10146535A>G
cDNA c.362A>G
Protein p.D121G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146535A>G c.362A>G p.D121G RefSeq GRCh38/hg38
NM_000551 chr3:g.10146535A>G c.362A>G p.D121G RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146535A>G c.362A>G p.D121G 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