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Gene | PTEN |
Variant | R15S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R15S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R15S demonstrates Pten protein stability similar to wild-type protein, however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), loss of Pten phosphatase activity, is unable to suppress cell proliferation in culture (PMID: 9823298), and has impaired nuclear localization (PMID: 17213812). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R15S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864514A>C |
cDNA | c.45A>C |
Protein | p.R15S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864514A>C | c.45A>C | p.R15S | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864514A>C | c.45A>C | p.R15S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864514A>C | c.45A>C | p.R15S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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