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Gene PTEN
Variant L345V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PTEN L345V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L345V demonstrates reduced Pten protein stability and leads to impaired developmental growth in flies, but demonstrates suppression of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 32350270), and shows phosphatase activity and growth similar to wild-type Pten in yeast (PMID: 25448481, PMID: 21828076), and therefore, is predicted to have no effect on Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN L345V

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Transcript NM_000314.8
gDNA chr10:g.87965293C>G
cDNA c.1033C>G
Protein p.L345V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87965293C>G c.1033C>G p.L345V RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965293C>G c.1033C>G p.L345V RefSeq GRCh38/hg38
NM_000314 chr10:g.87965293C>G c.1033C>G p.L345V 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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries