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Gene | ALK |
Variant | L1198F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK L1198F lies within the protein kinase domain of the Alk protein (UniProt.org). L1198F confers a gain of function to the Alk protein as demonstrated by increased Alk kinase activity and downstream Pi3k and Mapk pathway activation (PMID: 21596819). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK L1198F ALK mutant ALK L1198X ALK L1198F |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220759G>A |
cDNA | c.3592C>T |
Protein | p.L1198F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220759G>A | c.3592C>T | p.L1198F | RefSeq | GRCh38/hg38 |