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Gene | PTEN |
Variant | F278Lfs*12 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN F278Lfs*12 indicates a shift in the reading frame starting at amino acid 278 and terminating 12 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). F278Lfs*12 has not been characterized, however, due to the effects of other truncation mutations downstream of F278 (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 F278Lfs*12 |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960926_87960929delCTTC |
cDNA | c.834_837delCTTC |
Protein | p.F278Lfs*12 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87960926_87960929delCTTC | c.834_837delCTTC | p.F278Lfs*12 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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