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Gene PTEN
Variant Q214*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PTEN Q214* results in a premature truncation of the Pten protein at amino acid 214 of 403 UniProt.org). Q214* confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and failure to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN Q214*

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Transcript NM_000314.8
gDNA chr10:g.87957858C>T
cDNA c.640C>T
Protein p.Q214*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87957858C>T c.640C>T p.Q214* RefSeq GRCh38/hg38
NM_000314 chr10:g.87957858C>T c.640C>T p.Q214* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957858C>T c.640C>T p.Q214* 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References