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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 |
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 | 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_000314.6 | chr10:g.87957957_87957958insC | c.739_740insC | p.L247Sfs*6 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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