PTEN T321*
Gene Variant Detail

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Gene PTEN
Variant T321*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN T321* results in a premature truncation of the Pten protein at amino acid 321 of 403 (UniProt.org). T321* 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 T321*

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Transcript NM_000314.8
gDNA chr10:g.87961053_87961054delACinsTA
cDNA c.961_962delACinsTA
Protein p.T321*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87961053_87961054delACinsTA c.961_962delACinsTA p.T321* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87961053_87961054delACinsTA c.961_962delACinsTA p.T321* 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")

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