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Gene PTEN
Variant D24del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D24del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 24 (UniProt.org). D24del 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 D24del

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Transcript NM_000314.8
gDNA chr10:g.87864539_87864541delGAC
cDNA c.70_72delGAC
Protein p.D24delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87864539_87864541delGAC c.70_72delGAC p.D24del RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864539_87864541delGAC c.70_72delGAC p.D24delD RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87957879_87957881delAAG c.70_72delAAG p.K24delK RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864019_87864021delTCG c.70_72delTCG p.S24delS RefSeq GRCh38/hg38

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