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Gene | PTEN |
Variant | F154L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN F154L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F154L confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN F154L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933219T>C |
cDNA | c.460T>C |
Protein | p.F154L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933219T>C | c.460T>C | p.F154L | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933219T>C | c.460T>C | p.F154L | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933219T>C | c.460T>C | p.F154L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN F154L | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |