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| Gene | ALK |
| Variant | Y1278E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK Y1278E lies within the protein kinase domain of the Alk protein (UniProt.org). Y1278E is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK Y1278E |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29209788_29209790delTACinsGAG |
| cDNA | c.3832_3834delTACinsGAG |
| Protein | p.Y1278E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29209788_29209790delTACinsGAG | c.3832_3834delTACinsGAG | p.Y1278E | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29209788_29209790delTACinsGAG | c.3832_3834delTACinsGAG | p.Y1278E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|