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Gene | PTEN |
Variant | D162del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN D162del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 162 (UniProt.org). D162del 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 D162del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933243_87933245delGAC |
cDNA | c.484_486delGAC |
Protein | p.D162delD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87864434_87864436delCTC | c.484_486delCTC | p.L162delL | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87965335_87965337delGCT | c.484_486delGCT | p.A162delA | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933243_87933245delGAC | c.484_486delGAC | p.D162del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933243_87933245delGAC | c.484_486delGAC | p.D162delD | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D162del | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |