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Gene | PTEN |
Variant | V45del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V45del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 45 (UniProt.org). V45del 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 V45del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894078_87894080delGTA |
cDNA | c.133_135delGTA |
Protein | p.V45delV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87957942_87957944delGAG | c.133_135delGAG | p.E45delE | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87894078_87894080delGTA | c.133_135delGTA | p.V45del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894078_87894080delGTA | c.133_135delGTA | p.V45delV | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864082_87864084delCCA | c.133_135delCCA | p.P45delP | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN V45del | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |