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Gene VHL
Variant N78S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL N78S does not lie within any known functional domains of the Vhl protein (UniProt.org). N78S confers a loss of function to the Vhl protein as demonstrated by decreased Vhl protein stability, aberrant cell morphology, and impaired localization of Tjp1 (Zo-1) to tight junctions (PMID: 19602254), failure to regulate Hif1a ubiquitination (PMID: 11331613), and loss of Vdu1 (Usp33) binding in cell culture (PMID: 11739384).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL N78S

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Transcript NM_000551.4
gDNA chr3:g.10142080A>G
cDNA c.233A>G
Protein p.N78S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.2 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_198156 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_000551 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142080A>G c.233A>G p.N78S RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142080A>G c.233A>G p.N78S 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References