VHL R69C
Gene Variant Detail

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Gene VHL
Variant R69C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL R69C does not lie within any known functional domains of the Vhl protein (UniProt.org). R69C confers a loss of function to the Vhl protein as demonstrated by impaired binding to Hif1a in an in vitro assay and failure to mediate Hif2a degradation in cultured cells (PMID: 15611064).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL R69C

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Transcript NM_000551.4
gDNA chr3:g.10142052C>T
cDNA c.205C>T
Protein p.R69C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.2 chr3:g.10142052C>T c.205C>T p.R69C RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142052C>T c.205C>T p.R69C RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142052C>T c.205C>T p.R69C RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142052C>T c.205C>T p.R69C RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142052C>T c.205C>T p.R69C RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142052C>T c.205C>T p.R69C 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References