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Gene | PIK3CA |
Variant | E103_P104del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA E103_P104del results in the deletion of two amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acids 103 to 104 (UniProt.org). E103_P104del results in increased transformation ability in two different cell lines in culture (PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E103_P104del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199133_179199138delAACCAG |
cDNA | c.308_313delAACCAG |
Protein | p.E103_P104delEP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |