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VHL N90I - Gene Variant Detail

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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

Filtering

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  • 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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