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Gene VHL
Variant N90I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL N90I does not lie within any known functional domains of the Vhl protein (UniProt.org). N90I confers a loss of function to the Vhl protein as demonstrated by failure to regulate Hif1a ubiquitination and degradation in cultured cells (PMID: 10823831, PMID: 11555645).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL N90I

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Transcript NM_000551.4
gDNA chr3:g.10142116A>T
cDNA c.269A>T
Protein p.N90I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_000551 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142116A>T c.269A>T p.N90I RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142116A>T c.269A>T p.N90I 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