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Gene | PTEN |
Variant | K330E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN K330E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). K330E results in suppression of Akt phosphorylation similar to wild-type Pten, however, demonstrates reduced Pten protein stability in cell culture, leads to impaired developmental growth in flies (PMID: 32350270), and results in gain of Pten protein function in a Drosophila wing overgrowth assay (PMID: 34492006), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN K330E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961080A>G |
cDNA | c.988A>G |
Protein | p.K330E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87961080A>G | c.988A>G | p.K330E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961080A>G | c.988A>G | p.K330E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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