PTEN W274L
Gene Variant Detail

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Gene PTEN
Variant W274L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN W274L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). W274L results in reduced lipid phosphatase activity (PMID: 32150788), nuclear localization (PMID: 32150788, PMID: 29373119), Pten protein stability, dephosphorylation of Pip3, increased neuronal cell size (PMID: 29373119) and Pten sumoylation (PMID: 32150788), decreased tumor growth suppression in mice (PMID: 39197453), and reduced suppression of Akt phosphorylation in one study (PMID: 32350270), but Akt phosphorylation similar to wild-type in another study (PMID: 39197453), growth of yeast cells similar to wild-type (PMID: 21828076), and normal development in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN W274L

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Transcript NM_000314.8
gDNA chr10:g.87960913G>T
cDNA c.821G>T
Protein p.W274L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87960913G>T c.821G>T p.W274L RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87960913G>T c.821G>T p.W274L 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 )
  • 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