Gene Variant Detail

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Gene PTEN
Variant V166Sfs*14
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN V166Sfs*14 indicates a shift in the reading frame starting at amino acid 166 and terminating 14 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). V166Sfs*14 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 V166Sfs*14

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Transcript NM_000314.8
gDNA chr10:g.87952120dupA
cDNA c.495dupA
Protein p.V166Sfs*14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87952120dupA c.495dupA p.V166Sfs*14 RefSeq GRCh38/hg38
NM_000314 chr10:g.87952119_87952120insC c.494_495insC p.V166Sfs*14 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87952120dupA c.495dupA p.V166Sfs*14 RefSeq GRCh38/hg38

Filtering

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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