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Gene PTEN
Variant K6del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN K6del results in the deletion of an amino acid within the Pten protein at amino acid 6 (UniProt.org). K6del 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 K6del

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Transcript NM_000314.8
gDNA chr10:g.87864485_87864487delAAA
cDNA c.16_18delAAA
Protein p.K6delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87864485_87864487delAAA c.16_18delAAA p.K6del RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87863966_87863968delAAG c.17_19delAAG p.E6delE RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864485_87864487delAAA c.16_18delAAA p.K6delK RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87952232_87952234delATT c.16_18delATT p.I6delI RefSeq GRCh38/hg38

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