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Gene | PTEN |
Variant | V119del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V119del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 119 (UniProt.org). V119del 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 V119del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933115_87933117delTTG |
cDNA | c.356_358delTTG |
Protein | p.V119delV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933115_87933117delTTG | c.356_358delTTG | p.V119delV | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933115_87933117delTTG | c.356_358delTTG | p.V119del | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87961038_87961040delCTA | c.355_357delCTA | p.L119delL | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864305_87864307delCGC | c.355_357delCGC | p.R119delR | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN V119del | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |