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Gene PTEN
Variant C218*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN C218* results in a premature truncation of the Pten protein at amino acid 218 of 403 (UniProt.org). C218* results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN C218*

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Transcript NM_000314.8
gDNA chr10:g.87957872C>A
cDNA c.654C>A
Protein p.C218*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87957872C>A c.654C>A p.C218* RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957872C>A c.654C>A p.C218* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957872C>A c.654C>A p.C218* RefSeq GRCh38/hg38

Filtering

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  • 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 )
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  • 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