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Gene | PIK3CA |
Variant | N1044S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA N1044S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044S has been identified in the scientific literature (PMID: 26085511, PMID: 22653804, PMID: 32816889), 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 exon21 PIK3CA N1044S |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234288A>G |
cDNA | c.3131A>G |
Protein | p.N1044S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234288A>G | c.3131A>G | p.N1044S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E PIK3CA N1044S | thyroid gland anaplastic carcinoma | resistant | Dasatinib + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, an anaplastic thyroid cancer cell line harboring BRAF V600E and PIK3CA N1044S was resistant to the combination of Sprycel (dasatinib) and Mekinist (trametinib) in culture (PMID: 37713162). | 37713162 |
BRAF V600E PIK3CA N1044S | thyroid gland anaplastic carcinoma | sensitive | GSK2334470 + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, the addition of GSK2334470 sensitized an anaplastic thyroid cancer cell line harboring BRAF V600E and PIK3CA N1044S to Mekinist (trametinib) treatment as demonstrated by a reduction in viability in culture (PMID: 37713162). | 37713162 |
BRAF V600E PIK3CA N1044S | thyroid gland anaplastic carcinoma | resistant | Dasatinib + MK2206 + Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, the addition of MK2206 did not sensitize an anaplastic thyroid cancer cell line harboring BRAF V600E and PIK3CA N1044S to Sprycel (dasatinib) and Mekinist (trametinib) combination treatment in culture (PMID: 37713162). | 37713162 |