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Gene PTEN
Variant R47M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN R47M lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R47M has been identified in sequencing studies (PMID: 39394200), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN R47M

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Transcript NM_000314.8
gDNA chr10:g.87894085G>T
cDNA c.140G>T
Protein p.R47M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87894085G>T c.140G>T p.R47M RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864088_87864089delCGinsAT c.139_140delCGinsAT p.R47M RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864088_87864089delCGinsAT c.139_140delCGinsAT p.R47M RefSeq GRCh38/hg38
NM_000314 chr10:g.87894085G>T c.140G>T p.R47M RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87894085G>T c.140G>T p.R47M RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864088_87864089delCGinsAT c.139_140delCGinsAT p.R47M RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • 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")

Sorting

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