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Gene | PIK3CA |
Variant | V344G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA V344G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). V344G results in increased cell proliferation, migration, and Akt phosphorylation compared to wild-type Pik3ca in culture (PMID: 34779417) and increased transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA V344G PIK3CA mutant PIK3CA exon5 PIK3CA V344G |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203761T>G |
cDNA | c.1031T>G |
Protein | p.V344G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179203761T>G | c.1031T>G | p.V344G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA V344G | glioblastoma | no benefit | YM-024 | Preclinical | Actionable | In a preclinical study, YM-024 did not inhibit proliferation of glioblastoma cell lines harboring PIK3CA V344G in culture (PMID: 24718026). | 24718026 |