Gene Variant Detail

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Gene PTEN
Variant L247Sfs*6
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L247Sfs*6 indicates a shift in the reading frame starting at amino acid 247 and terminating 6 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). L247Sfs*6 has not been biochemically characterized, but results in increased transformation ability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN L247Sfs*6

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Transcript NM_000314.8
gDNA chr10:g.87957957_87957958insC
cDNA c.739_740insC
Protein p.L247Sfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87957957_87957958insC c.739_740insC p.L247Sfs*6 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957957_87957958insC c.739_740insC p.L247Sfs*6 RefSeq GRCh38/hg38
NM_000314 chr10:g.87957957_87957958insC c.739_740insC p.L247Sfs*6 RefSeq GRCh38/hg38

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