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 | S1206R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK S1206R lies within the protein kinase domain of the Alk protein (UniProt.org). S1206R has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ALK mutant ALK S1206R |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220734_29220735delTCinsCG |
| cDNA | c.3616_3617delTCinsCG |
| Protein | p.S1206R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.5 | chr2:g.29220734_29220735delTCinsCG | c.3616_3617delTCinsCG | p.S1206R | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29220734_29220735delTCinsCG | c.3616_3617delTCinsCG | p.S1206R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ALK S1206R | unknown | |
| EML4 - ALK ALK S1206R |