Gene Variant Detail

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Gene VHL
Variant S111N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL S111N lies within the CCT complex-binding region of the Vhl protein (UniProt.org). S111N leads to a loss of Vhl function as indicated by impaired binding to Hif-alpha and inhibition of Hif1a ubiquitination (PMID: 10878807).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S111N

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Transcript NM_000551.4
gDNA chr3:g.10142179G>A
cDNA c.332G>A
Protein p.S111N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_198156 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142179G>A c.332G>A p.S111N RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142179G>A c.332G>A p.S111N 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References