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Gene | PTEN |
Variant | L140* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L140* results in a premature truncation of the Pten protein at amino acid 140 of 403 (UniProt.org). L140* 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 L140* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933178T>A |
cDNA | c.419T>A |
Protein | p.L140* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933178T>A | c.419T>A | p.L140* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933178T>A | c.419T>A | p.L140* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L140* | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |