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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 in an in vitro assay and increased Akt and Erk phosphorylation, cell invasion, and transformation 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 | chr2:g.29220749C>T | c.3602G>A | p.G1201E | RefSeq | GRCh38/hg38 |
| 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 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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