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Gene PTEN
Variant D162del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D162del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 162 (UniProt.org). D162del 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 D162del

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Transcript NM_000314.8
gDNA chr10:g.87933243_87933245delGAC
cDNA c.484_486delGAC
Protein p.D162delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304718.2 chr10:g.87965335_87965337delGCT c.484_486delGCT p.A162delA RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933243_87933245delGAC c.484_486delGAC p.D162del RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864434_87864436delCTC c.484_486delCTC p.L162delL RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933243_87933245delGAC c.484_486delGAC p.D162delD RefSeq GRCh38/hg38

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