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Gene PTEN
Variant M134del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN M134del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 134 (UniProt.org). M134del 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 M134del

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Transcript NM_000314.8
gDNA chr10:g.87933161_87933163delGAT
cDNA c.402_404delGAT
Protein p.M134delM
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933161_87933163delGAT c.402_404delGAT p.M134del RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87961083_87961085delGAC c.400_402delGAC p.D134delD RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933161_87933163delGAT c.402_404delGAT p.M134delM RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864350_87864352delGAG c.400_402delGAG p.E134delE RefSeq GRCh38/hg38

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