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Gene PTEN
Variant D52del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D52del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 52 (UniProt.org). D52del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN D52del

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Transcript NM_000314.8
gDNA chr10:g.87894100_87894102delATG
cDNA c.155_157delATG
Protein p.D52delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304718.2 chr10:g.87957963_87957965delGTG c.154_156delGTG p.V52delV RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864104_87864107delTGGC c.155-1_157delTGGC p.R52delR RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87894100_87894102delATG c.155_157delATG p.D52delD RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87894100_87894102delATG c.155_157delATG p.D52del RefSeq GRCh38/hg38

Filtering

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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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries