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 | M552I |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | ALK M552I lies within MAM domain 2 of the Alk protein (UniProt.org). M552I has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK M552I |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29297049C>G |
| cDNA | c.1656G>C |
| Protein | p.M552I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29297049C>G | c.1656G>C | p.M552I | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29297049C>G | c.1656G>C | p.M552I | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29297049C>G | c.1656G>C | p.M552I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|