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 | C990R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK C990R lies within the extracellular domain of the Alk protein (UniProt.org). C990R results in increased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK C990R |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29227021A>G |
| cDNA | c.2968T>C |
| Protein | p.C990R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29227021A>G | c.2968T>C | p.C990R | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29227021A>G | c.2968T>C | p.C990R | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29227021A>G | c.2968T>C | p.C990R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|