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Gene | PIK3CA |
Variant | M1043I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA M1043I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043I confers a gain of function on the Pik3ca protein as indicated by in increased phosphorylation of Akt, activation of downstream signaling, and transformation in cell culture (PMID: 17376864, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA M1043I PIK3CA mutant PIK3CA exon21 PIK3CA M1043I |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234286G>C |
cDNA | c.3129G>C |
Protein | p.M1043I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234286G>C | c.3129G>C | p.M1043I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA M1043I | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
PIK3CA M1043I PIK3CA amp | ||
BRAF V600E PIK3CA M1043I |