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Gene | PIK3CA |
Variant | G512* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PIK3CA G512* results in a premature truncation of the Pik3ca protein at amino acid 512 of 1068 (UniProt.org). Due to the loss of the PI3K/PI4K kinase domain (UniProt.org), G512* is predicted to lead to a loss of Pik3ca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon9 PIK3CA G512* PIK3CA mutant PIK3CA inact mut PIK3CA G512* |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210560G>T |
cDNA | c.1534G>T |
Protein | p.G512* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210560G>T | c.1534G>T | p.G512* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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