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Gene | PTEN |
Variant | T321fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however, due to the effects of other truncation mutations downstream of T321 (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 T321fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961052_87961053) |
cDNA | c.(961_960) |
Protein | p.T321fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.(87961052_87961053) | c.(961_960) | p.T321fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87961052_87961053) | c.(961_960) | p.T321fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.(87961052_87961053) | c.(961_960) | p.T321fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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