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Gene | PTEN |
Variant | S380A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN S380A does not lie within any known functional domains of the Pten protein (UniProt.org). S380A retains the ability to respond to PIP2, but demonstrates reduced lipid phosphatase activity (PMID: 17565999), decreased Pten protein stability and reduced Pten phosphorylation (PMID: 10866658, PMID: 11035045), loss of ability to undergo phosphorylation by Topk in an in vitro assay, and results in reduced mitotic entry and increased cell cycle arrest (PMID: 24012691, PMID: 10866658), increased nuclear and membrane localization (PMID: 16807353, PMID: 17565999), and increased transcriptional activation of FKHR in culture (PMID: 10866658), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN S380A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965398T>G |
cDNA | c.1138T>G |
Protein | p.S380A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87965398T>G | c.1138T>G | p.S380A | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87952244_87952245delAGinsGC | c.1138_1139delAGinsGC | p.S380A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965398T>G | c.1138T>G | p.S380A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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