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Gene | PTEN |
Variant | V290Sfs*8 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V290Sfs*8 indicates a shift in the reading frame starting at amino acid 290 and terminating 8 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). V290Sfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of V290 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN V290fs PTEN V290Sfs*8 |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960959dupA |
cDNA | c.867dupA |
Protein | p.V290Sfs*8 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960959dupA | c.867dupA | p.V290Sfs*8 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960959dupA | c.867dupA | p.V290Sfs*8 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN V290Sfs*8 | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |