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Gene | PTEN |
Variant | K13E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K13E lies within the lipid binding domain of the Pten protein (PMID: 25263454). K13E has phosphatase activity similar to wild-type Pten, but fails to translocate into the nucleus, and is unable to inhibit Akt activation and cell proliferation in culture (PMID: 14711368, PMID: 17213812) and therefore, confers a loss of function to the Pten protein. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K13E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864506A>G |
cDNA | c.37A>G |
Protein | p.K13E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87864506A>G | c.37A>G | p.K13E | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864506A>G | c.37A>G | p.K13E | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864506A>G | c.37A>G | p.K13E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN K13E | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |