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Gene | PIK3CA |
Variant | I102_E103delinsK |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA I102_E103delinsK results in a deletion of two amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acids 102 to 103, combined with the insertion of a lysine (K) at the same site (UniProt.org). I102_E103delinsK has been identified in sequencing studies (PMID: 30393068, PMID: 33083132), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA I102_E103delinsK |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199130_179199132delTTG |
cDNA | c.305_307delTTG |
Protein | p.I102_E103delinsK |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179199130_179199132delTTG | c.305_307delTTG | p.I102_E103delinsK | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199130_179199132delTTG | c.305_307delTTG | p.I102_E103delinsK | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199130_179199132delTTG | c.305_307delTTG | p.I102_E103delinsK | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199130_179199132delTTG | c.305_307delTTG | p.I102_E103delinsK | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199130_179199132delTTG | c.305_307delTTG | p.I102_E103delinsK | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA I102_E103delinsK | unknown |