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Gene PTEN
Variant S294fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN S294fs results in a change in the amino acid sequence of the Pten protein beginning at aa 294 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). S294fs has not been characterized, however, due to the effects of other truncation mutations downstream of S294 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN S294fs

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Transcript NM_000314.8
gDNA chr10:g.(87960971_87960972)
cDNA c.(880_879)
Protein p.S294fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87960971_87960972) c.(880_879) p.S294fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87960971_87960972insTATT c.879_880insTATT p.S294fs*2 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87960971_87960972) c.(880_879) p.S294fs 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
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Molecular Profile Protein Effect Treatment Approaches
PTEN S294fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor