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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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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