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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 |