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 | R1275L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK R1275L lies within the protein kinase domain of the Alk protein (UniProt.org). R1275L has been identified in the scientific literature (PMID: 27888620), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK R1275X ALK R1275L |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29209798C>A |
| cDNA | c.3824G>T |
| Protein | p.R1275L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304 | chr2:g.29209798C>A | c.3824G>T | p.R1275L | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29209798C>A | c.3824G>T | p.R1275L | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29209798C>A | c.3824G>T | p.R1275L | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|