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 | E545V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E545V is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545V has been identified in sequencing studies (PMID: 29482551, PMID: 24504419), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545V |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218304A>T |
cDNA | c.1634A>T |
Protein | p.E545V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218304A>T | c.1634A>T | p.E545V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E545V | unknown | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |