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Gene | PTEN |
Variant | S385* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN S385* results in a premature truncation of the Pten protein at amino acid 398 of 403 (UniProt.org). S385* results in decreased Pten protein stability and reduced ability to inhibit Akt phosphorylation and transformation in culture (PMID: 10468583). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN S385* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965414_87965415delCTinsAA |
cDNA | c.1154_1155delCTinsAA |
Protein | p.S385* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87965414_87965415delCTinsAA | c.1154_1155delCTinsAA | p.S385* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965414_87965415delCTinsAA | c.1154_1155delCTinsAA | p.S385* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965414_87965415delCTinsAA | c.1154_1155delCTinsAA | p.S385* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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