PTEN F279I
Gene Variant Detail

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Gene PTEN
Variant F279I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN F279I lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F279I demonstrates reduced Pten protein stability, however, results in suppression of Akt phosphorylation similar to wild-type Pten in cell culture, and leads to normal developmental growth in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN F279I

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Transcript NM_000314.8
gDNA chr10:g.87960927T>A
cDNA c.835T>A
Protein p.F279I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87960927T>A c.835T>A p.F279I RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87960927T>A c.835T>A p.F279I RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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