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| Gene | ALK |
| Variant | R753Q |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ALK R753Q lies within the extracellular domain of the Alk protein (UniProt.org). R753Q results in increased cytokine-dependent growth in cell culture (PMID: 34646012), and therefore, is predicted to lead to a gain of Alk protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK R753Q |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29239777C>T |
| cDNA | c.2258G>A |
| Protein | p.R753Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29239777C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29239777C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29239777C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ALK R753Q | gain of function - predicted |