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Gene | PTEN |
Variant | P248fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN P248fs results in a change in the amino acid sequence of the Pten protein beginning at aa 248 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P248fs has not been characterized, however, due to the effects of other truncation mutations downstream of P248 (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 P248fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87957959_87957960) |
cDNA | c.(742_741) |
Protein | p.P248fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.(87957959_87957960) | c.(742_741) | p.P248fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87957959_87957960) | c.(742_741) | p.P248fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87957959_87957960) | c.(742_741) | p.P248fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN P248fs | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |