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 | N1000D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA N1000D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1000D has been identified in the scientific literature (PMID: 22949056, PMID: 24983367), 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 exon21 PIK3CA N1000D |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234155A>G |
cDNA | c.2998A>G |
Protein | p.N1000D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234155A>G | c.2998A>G | p.N1000D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|