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Gene | PTEN |
Variant | Q298E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN Q298E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). Q298E leads to slowed developmental growth rate in flies, but demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 32350270), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Q298E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960984C>G |
cDNA | c.892C>G |
Protein | p.Q298E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960984C>G | c.892C>G | p.Q298E | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960984C>G | c.892C>G | p.Q298E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960984C>G | c.892C>G | p.Q298E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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