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 | D331Tfs*13 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN D331Tfs*13 indicates a shift in the reading frame starting at amino acid 331 and terminating 13 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). D331Tfs*13 has not been biochemically characterized, but results in increased transformation ability in two different cell lines (PMID: 29533785), 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 D331fs PTEN D331Tfs*13 |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961083delG |
cDNA | c.991delG |
Protein | p.D331Tfs*13 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87961083delG | c.991delG | p.D331Tfs*13 | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961083delG | c.991delG | p.D331Tfs*13 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961083delG | c.991delG | p.D331Tfs*13 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D331Tfs*13 | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |