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Gene | PTEN |
Variant | L108P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L108P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L108P results in a loss of Pten phosphatase activity, is unable to suppress Akt activation in cell culture (PMID: 25527629), and has reduced protein stability (PMID: 27405757). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L108P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933082T>C |
cDNA | c.323T>C |
Protein | p.L108P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933082T>C | c.323T>C | p.L108P | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933082T>C | c.323T>C | p.L108P | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933082T>C | c.323T>C | p.L108P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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