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Gene PTEN
Variant Y240Ffs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Y240Ffs*2 indicates a shift in the reading frame starting at amino acid 240 and terminating two residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). Y240Ffs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of Y240 (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 Y240Ffs*2

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Transcript NM_000314.8
gDNA chr10:g.87957937_87957938delAC
cDNA c.719_720delAC
Protein p.Y240Ffs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87957937_87957938delAC c.719_720delAC p.Y240Ffs*2 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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