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Gene | PTEN |
Variant | K6E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K6E lies within the lipid binding domain of the Pten protein (PMID: 25263454). K6E demonstrates protein stability similar to wild-type Pten (PMID: 32350270), however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), fails to suppress Akt phosphorylation in cell culture, and delays development in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K6E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864485A>G |
cDNA | c.16A>G |
Protein | p.K6E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87864485A>G | c.16A>G | p.K6E | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864485A>G | c.16A>G | p.K6E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864485A>G | c.16A>G | p.K6E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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