PTEN F278Lfs*12
Gene Variant Detail

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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

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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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References