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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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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