Gene Variant Detail

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Gene VHL
Variant Q164R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL Q164R lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). Q164R retains the ability to bind to the Elongin BC complex and ubiquitinate Hif1a in in vitro assays (PMID: 26503325), however, is predicted to lead to a loss of Vhl protein function as demonstrated by increased ubiquitination by Ube2s leading to reduced Vhl protein stability and impaired ability to adequately regulate Hif protein expression and activity in in vitro assays and cell culture (PMID: 26503325).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL Q164R

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Transcript NM_000551.4
gDNA chr3:g.10149814A>G
cDNA c.491A>G
Protein p.Q164R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149814A>G c.491A>G p.Q164R RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149814A>G c.491A>G p.Q164R RefSeq GRCh38/hg38
NM_000551 chr3:g.10149814A>G c.491A>G p.Q164R 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.

Molecular Profile Protein Effect Treatment Approaches
VHL Q164R loss of function - predicted