VHL K171G - Gene Variant Detail

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Gene VHL
Variant K171G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL K171G does not lie within any known functional domains of the Vhl protein (UniProt.org). K171G confers a loss of function to the Vhl protein as demonstrated by decreased Vhl sumoylation, aberrant Vhl localization, decreased association with Alix and Endobrevin and decreased localization of Alix and Endobrevin to the spindle midbody, increase in unresolved cytokinetic bridges, and accumulation of multinucleated cells in culture, and increased tumor formation in mouse models (PMID: 21652636).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL K171G

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Transcript NM_000551.4
gDNA chr3:g.10149834_10149835delAAinsGG
cDNA c.511_512delAAinsGG
Protein p.K171G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10149834_10149835delAAinsGG c.511_512delAAinsGG p.K171G RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10149834_10149835delAAinsGG c.511_512delAAinsGG p.K171G RefSeq GRCh38/hg38
NM_000551 chr3:g.10149834_10149835delAAinsGG c.511_512delAAinsGG p.K171G 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries