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Gene | ALK |
Variant | L1196Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1196Q lies within the protein kinase domain of the Alk protein (UniProt.org). L1196Q has been demonstrated to confer resistance to Alk inhibitors in the context of ALK rearrangements (PMID: 25749034, PMID: 33209633, PMID: 38290249), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1196X ALK L1196Q |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220764A>T |
cDNA | c.3587T>A |
Protein | p.L1196Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220764A>T | c.3587T>A | p.L1196Q | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220764A>T | c.3587T>A | p.L1196Q | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220764A>T | c.3587T>A | p.L1196Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK L1196Q | unknown | ALK Inhibitor |
EML4 - ALK ALK L1196Q | ||
ALK rearrange ALK L1196Q |