Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PTEN |
Variant | K342* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K342* results in a premature truncation of the Pten protein at amino acid 342 of 403 (UniProt.org). K342* results in decreased Pten protein stability, loss of phosphatase activity, and failure to inhibit Akt phosphorylation and transformation in culture (PMID: 10468583). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K342* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961116A>T |
cDNA | c.1024A>T |
Protein | p.K342* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87961116A>T | c.1024A>T | p.K342* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961116A>T | c.1024A>T | p.K342* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961116A>T | c.1024A>T | p.K342* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN K342* | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |