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Gene PTEN
Variant E284fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN E284fs results in a change in the amino acid sequence of the Pten protein beginning at aa 284 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E284fs has not been characterized, however, due to the effects of other truncation mutations downstream of E284 (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 E284fs

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Transcript NM_000314.8
gDNA chr10:g.(87960941_87960942)
cDNA c.(850_849)
Protein p.E284fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87960941_87960942) c.(850_849) p.E284fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87960941_87960942) c.(850_849) p.E284fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87960941_87960942) c.(850_849) p.E284fs 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 )
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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