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Gene | PTEN |
Variant | S10del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN S10del results in the deletion of an amino acid within the Pten protein at amino acid ten (UniProt.org). S10del 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 S10del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864499_87864501delCAG |
cDNA | c.30_32delCAG |
Protein | p.S10delS |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.1 | chr10:g.87952244_87952246delAGT | c.28_30delAGT | p.S10del | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87952244_87952246delAGT | c.28_30delAGT | p.S10delS | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87863982_87863984delGGC | c.33_35delGGC | p.A17delA | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864499_87864501delCAG | c.30_32delCAG | p.S10del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864499_87864501delCAG | c.30_32delCAG | p.S10delS | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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