Gene Variant Detail

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Gene VHL
Variant R167Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL R167Q does not lie within any known functional domains of the Vhl protein (UniProt.org). R167Q leads to a loss of Vhl function as indicated by impaired Elongin C binding and inhibition of Hif2a expression in cell culture (PMID: 15574766).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL R167Q

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Transcript NM_000551.4
gDNA chr3:g.10149823G>A
cDNA c.500G>A
Protein p.R167Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149823G>A c.500G>A p.R167Q RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149823G>A c.500G>A p.R167Q RefSeq GRCh38/hg38
NM_000551 chr3:g.10149823G>A c.500G>A p.R167Q 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 R167Q loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor