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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 |
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_000314.8 | 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_001304717.5 | chr10:g.87863998_87864000delGCT | c.49_51delGCT | p.A17delA | RefSeq | GRCh38/hg38 |
NM_001304718.2 | 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_001304718 | chr10:g.87957858_87957860delCAG | c.49_51delCAG | p.Q17delQ | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864518_87864520delCAA | c.49_51delCAA | p.Q17del | RefSeq | GRCh38/hg38 |
NM_001304718.1 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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