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Gene PTEN
Variant E43fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN E43fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 43 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E43fs has not been characterized, however, due to the effects of other truncation mutations downstream of E43 (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 E43fs

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Transcript NM_000314.8
gDNA chr10:g.(87894071_87894072)
cDNA c.(127_126)
Protein p.E43fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87894071_87894072) c.(127_126) p.E43fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87894071_87894072) c.(127_126) p.E43fs RefSeq GRCh38/hg38

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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
PTEN E43fs choroid plexus carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, adjuvant Afinitor (everolimus) treatment after surgery and radiotherapy resulted in stable disease in a patient with choroid plexus carcinoma harboring PTEN E43fs, who completed 12 months of therapy and remained in remission at 60 months after initial diagnosis (PMID: 37535883). 37535883