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Gene | PIK3CA |
Variant | V344M |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA V344M lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). V344M 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 V344M PIK3CA mutant PIK3CA exon5 PIK3CA V344M |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203760G>A |
cDNA | c.1030G>A |
Protein | p.V344M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179203760G>A | c.1030G>A | p.V344M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA V344M | gain of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |