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Gene | PIK3CA |
Variant | P104_V105del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA P104_V105del results in the deletion of two amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acids 104 to 105 (UniProt.org). P104_V105del has been identified in sequencing studies (PMID: 28178681), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA P104_V105del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199135_179199140delCCAGTA |
cDNA | c.310_315delCCAGTA |
Protein | p.P104_V105delPV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179199135_179199140delCCAGTA | c.310_315delCCAGTA | p.P104_V105del | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199135_179199140delCCAGTA | c.310_315delCCAGTA | p.P104_V105del | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199135_179199140delCCAGTA | c.310_315delCCAGTA | p.P104_V105del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199135_179199140delCCAGTA | c.310_315delCCAGTA | p.P104_V105delPV | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199135_179199140delCCAGTA | c.310_315delCCAGTA | p.P104_V105delPV | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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