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Gene | PIK3CA |
Variant | R975S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA R975S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). The functional effect of R975S is conflicting, as it results in cell proliferation, viability, migration, and Akt phosphorylation levels similar to wild-type Pik3ca (PMID: 29533785, PMID: 34779417), but modestly increased cell proliferation in another study (PMID: 23619167), and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon20 PIK3CA R975S |
Transcript | NM_006218.4 |
gDNA | chr3:g.179230365A>C |
cDNA | c.2925A>C |
Protein | p.R975S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179230365A>C | c.2925A>C | p.R975S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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