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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_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
NM_001304718.2 chr10:g.87957963_87957965delGTG c.154_156delGTG p.V52delV RefSeq GRCh38/hg38

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