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Gene PTEN
Variant V45del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN V45del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 45 (UniProt.org). V45del 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 V45del

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Transcript NM_000314.8
gDNA chr10:g.87894078_87894080delGTA
cDNA c.133_135delGTA
Protein p.V45delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.5 chr10:g.87864082_87864084delCCA c.133_135delCCA p.P45delP RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87894078_87894080delGTA c.133_135delGTA p.V45del RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87894078_87894080delGTA c.133_135delGTA p.V45delV RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87957942_87957944delGAG c.133_135delGAG p.E45delE RefSeq GRCh38/hg38

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