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Gene | PTEN |
Variant | R47K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN R47K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R47K results in increased lipid phosphatase activity in an in vitro assay (PMID: 25429968) and demonstrates Pten protein stability similar to wild-type protein, but fails to suppress Akt phosphorylation in cell culture and leads to impaired developmental growth in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN R47K |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894085G>A |
cDNA | c.140G>A |
Protein | p.R47K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87864088_87864089delCGinsAA | c.139_140delCGinsAA | p.R47K | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894085G>A | c.140G>A | p.R47K | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87894085G>A | c.140G>A | p.R47K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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