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Gene PTEN
Variant Q17Kfs*7
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Q17Kfs*7 indicates a shift in the reading frame starting at amino acid 17 and terminating 7 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). Q17Kfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of Q17 (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 Q17Kfs*7

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Transcript NM_000314.8
gDNA chr10:g.87864518delC
cDNA c.49delC
Protein p.Q17Kfs*7
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87864518delC c.49delC p.Q17Kfs*7 RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.(87957858_87957881) c.(49_72) p.Q17Kfs*7 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87864518delC c.49delC p.Q17Kfs*7 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")

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Molecular Profile Protein Effect Treatment Approaches
PTEN Q17Kfs*7 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor