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Gene | PIK3CA |
Variant | R115L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA R115L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R115L confers a gain of function to the Pik3ca protein as demonstrated by increased cell growth, activation of the PI3K pathway (PMID: 23619167), and increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA R115L |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199169G>T |
cDNA | c.344G>T |
Protein | p.R115L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199169G>T | c.344G>T | p.R115L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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