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Gene | PIK3CA |
Variant | L456Afs*13 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA L456Afs*13 indicates a shift in the reading frame starting at amino acid 456 and terminating 13 residues downstream causing a premature truncation of the 1068 amino acid Pik3ca protein (UniProt.org). L456Afs*13 results in decreased transformation ability in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA L456Afs*13 |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210299dupG |
cDNA | c.1365dupG |
Protein | p.L456Afs*13 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179210299dupG | c.1365dupG | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179210298_179210299insA | c.1364_1365insA | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210299dupG | c.1365dupG | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210298_179210299insA | c.1364_1365insA | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210299dupG | c.1365dupG | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210298_179210299insA | c.1364_1365insA | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210299dupG | c.1365dupG | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210299dupG | c.1365dupG | p.L456Afs*13 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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