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Gene PTEN
Variant G143fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN G143fs results in a change in the amino acid sequence of the Pten protein beginning at 143 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). G143fs has not been characterized, however, due to the effects of other truncation mutations downstream of G143 (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 G143fs

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Transcript NM_000314.8
gDNA chr10:g.(87933185_87933186)
cDNA c.(427_426)
Protein p.G143fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87933185_87933186) c.(427_426) p.G143fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87933187delG c.428delG p.G143fs*4 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87933185_87933186) c.(427_426) p.G143fs 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 Protein Effect Treatment Approaches
PTEN G143fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor