Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PIK3CA |
Variant | C420G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA C420G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). The functional effect of C420G is conflicting, as it results in increased Akt phosphorylation and cell proliferation, and is transforming in cell culture in one study (PMID: 18074223), however in another study, induces similar cell proliferation and cell viability compared to wild-type Pik3ca, in two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA C420G |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210192T>G |
cDNA | c.1258T>G |
Protein | p.C420G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210192T>G | c.1258T>G | p.C420G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|