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Gene PTEN
Variant P246L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN P246L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P246L demonstrates inhibition of Pi3k signaling similar to wild-type Pten in yeast (PMID: 17942903), and retains the ability to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454) and suppresses Akt signaling in culture (PMID: 32704382), however, demonstrates reduced Pten protein stability, and fails to rescue spheroid formation in cell culture (PMID: 32366478), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN P246L

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Transcript NM_000314.8
gDNA chr10:g.87957955C>T
cDNA c.737C>T
Protein p.P246L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87957955C>T c.737C>T p.P246L RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957955C>T c.737C>T p.P246L RefSeq GRCh38/hg38
NM_000314 chr10:g.87957955C>T c.737C>T p.P246L 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 )
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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