Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | ALK |
| Variant | I1170V |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ALK I1170V lies within the protein kinase domain of the Alk protein (UniProt.org). I1170V is not transforming in cultured cells but is activating in an in vitro assay (PMID: 33674381), and therefore, is predicted to lead to a gain of Alk protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK I1170V |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29222351T>C |
| cDNA | c.3508A>G |
| Protein | p.I1170V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29222351T>C | c.3508A>G | p.I1170V | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29222351T>C | c.3508A>G | p.I1170V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|