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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

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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_000314.6 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_000314.8 chr10:g.87965398T>G c.1138T>G p.S380A RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References