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Gene PTEN
Variant E18G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN E18G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E18G results in mRNA and protein expression similar to wild-type Pten in culture but leads to a loss of phosphatase activity as indicated by loss of Akt phosphorylation and reduced expression in a patient sample in the context of a C105F mutation (PMID: 36591942), but has not been individually characterized, and therefore, its effect on protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN E18G

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Transcript NM_000314.8
gDNA chr10:g.87864522A>G
cDNA c.53A>G
Protein p.E18G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87864522A>G c.53A>G p.E18G RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries