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Gene | ALK |
Variant | F856S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F856S lies within the extracellular domain of the Alk protein (UniProt.org). F856S confers a gain of function to the Alk protein as demonstrated by increased cell proliferation in the absence of growth factor (PMID: 26032424, PMID: 34646012) and colony formation in culture (PMID: 26032424). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK F856S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29232369A>G |
cDNA | c.2567T>C |
Protein | p.F856S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29232369A>G | c.2567T>C | p.F856S | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29232369A>G | c.2567T>C | p.F856S | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29232369A>G | c.2567T>C | p.F856S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK F856S | gain of function | ALK Inhibitor |