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 | D1276_R1279delinsE |
Impact List | indel |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK D1276_R1279delinsE results in a deletion of four amino acids in the protein kinase domain of the Alk protein from amino acids 1276 to 1279, combined with the insertion of a glutamic acid (E) at the same site (UniProt.org). D1276_R1279delinsE results in constitutive activation of Alk and is transforming in cell culture (PMID: 37147298). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK D1276_R1279delinsE |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209786_29209794delCTGTAGATG |
cDNA | c.3828_3836delCATCTACAG |
Protein | . |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29209786_29209794delCTGTAGATG | c.3828_3836delCATCTACAG | p.D1276_R1279delinsE | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29209786_29209794delCTGTAGATG | c.3828_3836delCATCTACAG | . | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|