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| Gene | ALK |
| Variant | G1201E |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK G1201E lies within the protein kinase domain of the Alk protein (UniProt.org). G1201E confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity and downstream Pi3k and Mapk pathway activation in culture (PMID: 21596819). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK G1201E |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220749C>T |
| cDNA | c.3602G>A |
| Protein | p.G1201E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29220749C>T | c.3602G>A | p.G1201E | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29220749C>T | c.3602G>A | p.G1201E | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220749C>T | c.3602G>A | p.G1201E | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|