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| Gene | ALK |
| Variant | R1209Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK R1209Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1209Q leads to decreased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized, and therefore, its effect on Alk protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK R1209Q |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220725C>T |
| cDNA | c.3626G>A |
| Protein | p.R1209Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304 | chr2:g.29220725C>T | c.3626G>A | p.R1209Q | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29220725C>T | c.3626G>A | p.R1209Q | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29220725C>T | c.3626G>A | p.R1209Q | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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