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Gene | PIK3CA |
Variant | V105_R108del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA V105_R108del results in the deletion of four amino acids in the Pik3ca protein from amino acids 105 to 108 (UniProt.org). V105_R108del has not been biochemically characterized, but 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 V105_R108del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199139_179199150del12 |
cDNA | c.314_325del12 |
Protein | p.V105_R108delVGNR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |