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Gene PTEN
Variant D324del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D324del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 324 (UniProt.org). D324del 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 D324del

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Transcript NM_000314.8
gDNA chr10:g.87961062_87961064delGAT
cDNA c.970_972delGAT
Protein p.D324delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87961062_87961064delGAT c.970_972delGAT p.D324del RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87933210_87933212delGCC c.970_972delGCC p.A324delA RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87961062_87961064delGAT c.970_972delGAT p.D324delD RefSeq GRCh38/hg38

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