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Gene | PIK3CA |
Variant | D350H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA D350H lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D350H has been identified in the scientific literature (PMID: 37318638, PMID: 28912153, PMID: 33203919), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon5 PIK3CA D350H |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203778G>C |
cDNA | c.1048G>C |
Protein | p.D350H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179203778G>C | c.1048G>C | p.D350H | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179203778G>C | c.1048G>C | p.D350H | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179203778G>C | c.1048G>C | p.D350H | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179203778G>C | c.1048G>C | p.D350H | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179203778G>C | c.1048G>C | p.D350H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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