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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 |