Gene Variant Detail

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Gene VHL
Variant S139fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL S139fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 139 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). S139fs has not been characterized, however, due to the effects of other truncation mutations downstream of S139 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S139fs

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Transcript NM_000551.4
gDNA chr3:g.(10146587_10146588)
cDNA c.(415_414)
Protein p.S139fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.(10146587_10146588) c.(415_414) p.S139fs RefSeq GRCh38/hg38
NM_000551.3 chr3:g.(10146587_10146588) c.(415_414) p.S139fs 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 S139fs loss of function - predicted mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor