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Gene PTEN
Variant L318fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L318fs results in a change in the amino acid sequence of the Pten protein beginning at aa 318 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L318fs has not been characterized, however, due to the effects of other truncation mutations downstream of L318 (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 L318fs

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Transcript NM_000314.8
gDNA chr10:g.(87961043_87961044)
cDNA c.(952_951)
Protein p.L318fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87961043_87961044) c.(952_951) p.L318fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87961043_87961044) c.(952_951) p.L318fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87961044_87961045insGCTGA c.952_953insGCTGA p.L318fs*2 RefSeq GRCh38/hg38

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