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Gene | ALK |
Variant | G1201E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK G1201E lies within the protein kinase domain of the Alk protein (UniProt.org). G1201E confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity and downstream Pi3k and Mapk pathway activation in culture (PMID: 21596819). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK G1201E |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220749C>T |
cDNA | c.3602G>A |
Protein | p.G1201E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |