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| Gene | ALK |
| Variant | A1200V |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | ALK A1200V lies within the protein kinase domain of the Alk protein (UniProt.org). A1200V demonstrates kinase activity comparable to wild-type Alk in culture (PMID: 25517749), and therefore, is predicted to have no effect on Alk protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK A1200V |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220752G>A |
| cDNA | c.3599C>T |
| Protein | p.A1200V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.5 | chr2:g.29220752G>A | c.3599C>T | p.A1200V | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29220752G>A | c.3599C>T | p.A1200V | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220752G>A | c.3599C>T | p.A1200V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|