PTEN E7*
Gene Variant Detail

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Gene PTEN
Variant E7*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN E7* results in a premature truncation of the Pten protein at amino acid 7 of 403 (UniProt.org). E7* has not been characterized, however, due to the effects of other truncation mutations downstream of E7 (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 E7*

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Transcript NM_000314.8
gDNA chr10:g.87864488G>T
cDNA c.19G>T
Protein p.E7*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87864488G>T c.19G>T p.E7* RefSeq GRCh38/hg38
NM_000314 chr10:g.87864488G>T c.19G>T p.E7* RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864488G>T c.19G>T p.E7* 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