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Gene PTEN
Variant V54del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN V54del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 54 (UniProt.org). V54del 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 V54del

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Transcript NM_000314.8
gDNA chr10:g.87894105_87894107delGTA
cDNA c.160_162delGTA
Protein p.V54delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87894105_87894107delGTA c.160_162delGTA p.V54del RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87894105_87894107delGTA c.160_162delGTA p.V54delV RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864110_87864112delATC c.160_162delATC p.I54delI RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87957970_87957972delGTG c.161_163delGTG p.G54delG RefSeq GRCh38/hg38

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