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Gene | PIK3CA |
Variant | L938* |
Impact List | nonsense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA L938* results in a premature truncation of the Pik3ca protein at amino acid 938 of 1068 (UniProt.org). L938* results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2) in cell culture (PMID: 28424201), 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 L938* PIK3CA mutant PIK3CA exon20 PIK3CA L938* |
Transcript | NM_006218.4 |
gDNA | chr3:g.179230253T>A |
cDNA | c.2813T>A |
Protein | p.L938* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179230253T>A | c.2813T>A | p.L938* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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