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 | E78K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E78K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E78K has been identified in the scientific literature (PMID: 27126994), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA E78K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199057G>A |
cDNA | c.232G>A |
Protein | p.E78K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199057G>A | c.232G>A | p.E78K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|