Gene Variant Detail

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Gene VHL
Variant H115Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL H115Q lies within the CCT complex-binding region of the Vhl protein (UniProt.org). H115Q is predicted to confer a loss of function to the Vhl protein, as indicated by decreased binding to Hif1a in cell culture (PMID: 28775317).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL H115Q

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Transcript NM_000551.4
gDNA chr3:g.10146518C>A
cDNA c.345C>A
Protein p.H115Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146518C>A c.345C>A p.H115Q RefSeq GRCh38/hg38
NM_000551 chr3:g.10146518C>A c.345C>A p.H115Q RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146518C>A c.345C>A p.H115Q 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 H115Q loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor