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Gene PTEN
Variant L57fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L57fs results in a change in the amino acid sequence of the Pten protein beginning at aa 57 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L57fs has not been characterized, however, due to the effects of other truncation mutations downstream of L57 (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 L57fs

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Transcript NM_000314.8
gDNA chr10:g.(87925516_87925517)
cDNA c.(169_168)
Protein p.L57fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87925516_87925517) c.(169_168) p.L57fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87925516_87925517) c.(169_168) p.L57fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87925518delT c.170delT p.L57fs*42 RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
PTEN L57fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor