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Gene | PIK3CA |
Variant | R115P |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA R115P does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R115P results in cell cycle distribution and apoptosis comparable to wild-type Pik3ca, but leads to increased Akt and Mtor phosphorylation, cyclin D1 and phosphorylated Rb levels, colony formation, and migration in cultured cells (PMID: 31632573). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA R115P |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199169G>C |
cDNA | c.344G>C |
Protein | p.R115P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179199169G>C | c.344G>C | p.R115P | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199169G>C | c.344G>C | p.R115P | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199169G>C | c.344G>C | p.R115P | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199169G>C | c.344G>C | p.R115P | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199169G>C | c.344G>C | p.R115P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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