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 | F1245V |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK F1245V lies within the protein kinase domain of the Alk protein (UniProt.org). F1245V confers a gain of function to the Alk protein, as it results in increased Alk kinase activity in vitro and leads to transformation activity in cell culture (PMID: 25517749, PMID: 33674381, PMID: 25517749). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK act mut ALK F1245V ALK mutant ALK F1245X ALK F1245V |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29213994A>C |
| cDNA | c.3733T>G |
| Protein | p.F1245V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304 | chr2:g.29213994A>C | c.3733T>G | p.F1245V | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29213994A>C | c.3733T>G | p.F1245V | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29213994A>C | c.3733T>G | p.F1245V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ALK F1245V | gain of function | ALK Inhibitor |
| EML4 - ALK ALK F1245V | ||
| EML4 - ALK ALK D1203N ALK F1245V | ||
| ALK I1171T ALK R1192P ALK L1196M ALK F1245V |