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Gene PTEN
Variant Q17del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Q17del results in the deletion of an amino acid in the phosphatase tensin-type domain of the Pten protein at amino acid 17 (UniProt.org). Q17del 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 Q17del

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Transcript NM_000314.8
gDNA chr10:g.87864518_87864520delCAA
cDNA c.49_51delCAA
Protein p.Q17delQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304718.1 chr10:g.87957858_87957860delCAG c.49_51delCAG p.Q17delQ RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87863998_87864000delGCT c.49_51delGCT p.A17delA RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864518_87864520delCAA c.49_51delCAA p.Q17delQ RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87863998_87864000delGCT c.49_51delGCT p.A17delA RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87864518_87864520delCAA c.49_51delCAA p.Q17del RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87957858_87957860delCAG c.49_51delCAG p.Q17delQ RefSeq GRCh38/hg38
NM_000314 chr10:g.87864518_87864520delCAA c.49_51delCAA p.Q17delQ RefSeq GRCh38/hg38
NM_001304717 chr10:g.87863998_87864000delGCT c.49_51delGCT p.A17delA RefSeq GRCh38/hg38
NM_001304718 chr10:g.87957858_87957860delCAG c.49_51delCAG p.Q17delQ RefSeq GRCh38/hg38

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