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Gene | PTEN |
Variant | K6I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K6I lies within the lipid binding domain of the Pten protein (PMID: 25263454). K6I demonstrates similar Pten protein stability to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), however, results in an intermediate ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and leads to developmental delay in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K6I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864486A>T |
cDNA | c.17A>T |
Protein | p.K6I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864486A>T | c.17A>T | p.K6I | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864486A>T | c.17A>T | p.K6I | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864486A>T | c.17A>T | p.K6I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN K6I | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |