Gene Variant Detail

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Gene VHL
Variant I206*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions VHL I206* results in a premature truncation of the Vhl protein at amino acid 206 of 213 (UniProt.org). I206* results in reduced Hif1a binding in low salt conditions and decreased Hif1a ubiquitination efficiency, and leads to increased Hif1a and Glut1 expression levels under hypoxic conditions in cell culture (PMID: 14691445).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL I206*

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Transcript NM_000551.4
gDNA chr3:g.10149939_10149941delATTinsTAA
cDNA c.616_618delATTinsTAA
Protein p.I206*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149939_10149941delATTinsTAA c.616_618delATTinsTAA p.I206* RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149939_10149941delATTinsTAA c.616_618delATTinsTAA p.I206* RefSeq GRCh38/hg38
NM_000551 chr3:g.10149939_10149941delATTinsTAA c.616_618delATTinsTAA p.I206* 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.
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Molecular Profile Protein Effect Treatment Approaches
VHL I206* loss of function mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor