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Gene | PTEN |
Variant | D331fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN D331fs results in a change in the amino acid sequence of the Pten protein beginning at 331 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). D331fs has not been characterized, however, due to the effects of other truncation mutations downstream of D331 (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 D331fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961082_87961083) |
cDNA | c.(991_990) |
Protein | p.D331fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961083delG | c.991delG | p.D331fs*13 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87961082_87961083) | c.(991_990) | p.D331fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87961082_87961083) | c.(991_990) | p.D331fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D331fs | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |