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Gene | PTEN |
Variant | L57W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L57W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L57W confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 9356475) and is unable to inhibit cell proliferation in culture (PMID: 9356475). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L57W |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925518T>G |
cDNA | c.170T>G |
Protein | p.L57W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87925518T>G | c.170T>G | p.L57W | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87925518T>G | c.170T>G | p.L57W | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87925518T>G | c.170T>G | p.L57W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L57W | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |