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Gene | PIK3CA |
Variant | H1047T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA H1047T is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047T has identified in the scientific literature (PMID: 29636477), 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 H1047X PIK3CA H1047T |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234296_179234297delCAinsAC |
cDNA | c.3139_3140delCAinsAC |
Protein | p.H1047T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234296_179234297delCAinsAC | c.3139_3140delCAinsAC | p.H1047T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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