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Gene | ALK |
Variant | Q1188_L1190del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ALK Q1188_L1190del results in the deletion of three amino acids in the protein kinase domain of the Alk protein from amino acids 1188 to 1190 (UniProt.org). Q1188_L1190del has been identified in the scientific literature (PMID: 33887694), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK Q1188_L1190del |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220785_29220793delGATTGCAGG |
cDNA | c.3563_3571delAATCCCTGC |
Protein | p.Q1188_L1190delQSL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220785_29220793delGATTGCAGG | c.3563_3571delAATCCCTGC | p.Q1188_L1190del | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220785_29220793delGATTGCAGG | c.3563_3571delAATCCCTGC | p.Q1188_L1190delQSL | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK Q1188_L1190del | unknown | |
EML4 - ALK ALK Q1188_L1190del |