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 | E172Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E172Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E172Q has been identified in sequencing studies (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA E172Q |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199851G>C |
cDNA | c.514G>C |
Protein | p.E172Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179199851G>C | c.514G>C | p.E172Q | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199851G>C | c.514G>C | p.E172Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|