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Gene | PIK3CA |
Variant | M1043L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA M1043L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043L results in increased transformation ability in two different cell lines in culture (PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA M1043L PIK3CA mutant PIK3CA exon21 PIK3CA M1043L |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234284A>C |
cDNA | c.3127A>C |
Protein | p.M1043L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234284A>C | c.3127A>C | p.M1043L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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