PTEN R47K
Gene Variant Detail

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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

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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_000314.6 chr10:g.87894085G>A c.140G>A p.R47K RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87894085G>A c.140G>A p.R47K RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864088_87864089delCGinsAA c.139_140delCGinsAA p.R47K RefSeq GRCh38/hg38

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  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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