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Gene | PTEN |
Variant | K322E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K322E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). K322E demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture, and leads to impaired developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K322E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961056A>G |
cDNA | c.964A>G |
Protein | p.K322E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87961056A>G | c.964A>G | p.K322E | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961056A>G | c.964A>G | p.K322E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961056A>G | c.964A>G | p.K322E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN K322E | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |