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Gene | PIK3CA |
Variant | C378Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA C378Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C378Y results in increased transformation ability in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA C378Y |
Transcript | NM_006218.4 |
gDNA | chr3:g.179204576G>A |
cDNA | c.1133G>A |
Protein | p.C378Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179204576G>A | c.1133G>A | p.C378Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA C378Y | unknown | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |