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| Gene | ALK |
| Variant | Y1278S |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK Y1278S is a hotspot mutation that lies within the activation loop of the Alk protein (PMID: 24060861, PMID: 25071110). Y1278S results in constitutive activation of Alk and is transforming in cell culture (PMID: 25517749, PMID: 29084134). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK Y1278S |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29209789T>G |
| cDNA | c.3833A>C |
| Protein | p.Y1278S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304 | chr2:g.29209789T>G | c.3833A>C | p.Y1278S | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29209789T>G | c.3833A>C | p.Y1278S | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29209789T>G | c.3833A>C | p.Y1278S | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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