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Gene | ALK |
Variant | K1062M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK K1062M lies within the cytoplasmic domain of the Alk protein (UniProt.org). K1062M confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity (PMID: 28199182) and increased AKT and ERK phosphorylation in in vitro assays (PMID: 21596819). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK K1062M |
Transcript | NM_004304.5 |
gDNA | chr2:g.29223516T>A |
cDNA | c.3185A>T |
Protein | p.K1062M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29223516T>A | c.3185A>T | p.K1062M | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29223516T>A | c.3185A>T | p.K1062M | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29223516T>A | c.3185A>T | p.K1062M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK K1062M | gain of function | ALK Inhibitor |