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Gene | ALK |
Variant | Y1278A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK Y1278A lies within the protein kinase domain of the Alk protein (UniProt.org). The functional effect of Y1278A is conflicting as it is not transforming in cultured cells in one study (PMID: 29084134), however, results in transformation in cultured cells in another study but is not activating in an in vitro assay (PMID: 33674381), and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK Y1278A |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209789_29209790delTAinsGC |
cDNA | c.3832_3833delTAinsGC |
Protein | p.Y1278A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |