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Gene PTEN
Variant R233*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PTEN R233* results in a premature truncation of the Pten protein at amino acid 233 of 403 (UniProt.org). R233* confers a loss of function to the Pten protein, as indicated by failure to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454), and increased transformation of two different cell lines (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R233*

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Transcript NM_000314.8
gDNA chr10:g.87957915C>T
cDNA c.697C>T
Protein p.R233*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87957915C>T c.697C>T p.R233* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957915C>T c.697C>T p.R233* RefSeq GRCh38/hg38
NM_000314 chr10:g.87957915C>T c.697C>T p.R233* 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References