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Gene | ALK |
Variant | I1170S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK I1170S lies within the protein kinase domain of the Alk protein (UniProt.org). I1170S confers a gain of function to Alk as demonstrated by increased kinase activity in in vitro assays and transformation in cultured cells (PMID: 33674381, PMID: 25517749). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK I1170S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222350A>C |
cDNA | c.3509T>G |
Protein | p.I1170S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222350A>C | c.3509T>G | p.I1170S | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222350A>C | c.3509T>G | p.I1170S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK I1170S | gain of function | ALK Inhibitor |