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VHL I151S - Gene Variant Detail

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Gene VHL
Variant I151S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL I151S lies within the CCT complex-binding region of the Vhl protein (UniProt.org). I151S confers a loss of function to the Vhl protein, as indicated by a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay (PMID: 38969834) and failure to bind to Elongin BC complex and TriC in culture (PMID: 14636579).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL I151S

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Transcript NM_000551.4
gDNA chr3:g.10146625T>G
cDNA c.452T>G
Protein p.I151S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146625T>G c.452T>G p.I151S RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146625T>G c.452T>G p.I151S 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