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VHL S111N - 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

Filtering

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  • 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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