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Gene | PIK3CA |
Variant | N1044D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA N1044D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044D has been identified in the scientific literature (PMID: 27468883, PMID: 34287479, PMID: 18180098), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon21 PIK3CA N1044D |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234287A>G |
cDNA | c.3130A>G |
Protein | p.N1044D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179234287A>G | c.3130A>G | p.N1044D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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