Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene VHL
Variant W117R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL W117R lies within the CCT complex-binding region of the Vhl protein (UniProt.org). W117R confers a loss of function to the Vhl protein as demonstrated by disrupted fibronectin matrix assembly (PMID: 9651579), decreased Hif1a binding and ubiquitination in in vitro assays (PMID: 11865071), and elevated Hif2a and Glut1 expression in normoxic conditions (PMID: 11865071, PMID: 17526729) and increased cell proliferation under low serum conditions in culture (PMID: 17526729).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL W117R

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.

Transcript NM_000551.4
gDNA chr3:g.10146522T>A
cDNA c.349T>A
Protein p.W117R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146522T>A c.349T>A p.W117R RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146522T>A c.349T>A p.W117R RefSeq GRCh38/hg38
NM_000551 chr3:g.10146522T>A c.349T>A p.W117R 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References