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Gene | PIK3CA |
Variant | H419_C420del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA H419_C420del results in the deletion of two amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 419 to 420 (UniProt.org). H419_C420del has been identified in sequencing studies (PMID: 30212483, PMID: 26051240, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon8 PIK3CA H419_C420del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210190_179210195delACTGTC |
cDNA | c.1256_1261delACTGTC |
Protein | p.H419_C420delHC |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179210190_179210195delACTGTC | c.1256_1261delACTGTC | p.H419_C420del | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210190_179210195delACTGTC | c.1256_1261delACTGTC | p.H419_C420delHC | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210190_179210195delACTGTC | c.1256_1261delACTGTC | p.H419_C420del | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210190_179210195delACTGTC | c.1256_1261delACTGTC | p.H419_C420del | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210190_179210195delACTGTC | c.1256_1261delACTGTC | p.H419_C420del | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210190_179210195delACTGTC | c.1256_1261delACTGTC | p.H419_C420delHC | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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