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Gene | PTEN |
Variant | L23F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L23F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L23F retains phosphatase activity, but results in nuclear accumulation of Pten and failure to inhibit Akt phosphorylation and cell proliferation in culture (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 L23F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864538A>T |
cDNA | c.69A>T |
Protein | p.L23F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87957876_87957878delCTAinsTTT | c.67_69delCTAinsTTT | p.L23F | RefSeq | GRCh38/hg38 |
NM_001304718 | chr10:g.87957876_87957878delCTAinsTTT | c.67_69delCTAinsTTT | p.L23F | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87957876_87957878delCTAinsTTT | c.67_69delCTAinsTTT | p.L23F | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864538A>T | c.69A>T | p.L23F | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864538A>T | c.69A>T | p.L23F | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864538A>T | c.69A>T | p.L23F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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