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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 |
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_000314.8 | 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_000314.6 | chr10:g.87952120dupA | c.495dupA | p.V166Sfs*14 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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