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Gene | ALK |
Variant | I1170N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK I1170N lies within the protein kinase domain of the Alk protein (UniProt.org). I1170N 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 I1170N |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222350A>T |
cDNA | c.3509T>A |
Protein | p.I1170N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222350A>T | c.3509T>A | p.I1170N | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222350A>T | c.3509T>A | p.I1170N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK I1170N | gain of function | ALK Inhibitor |