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 | I1268V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK I1268V lies within the protein kinase domain of the Alk protein (UniProt.org). I1268V has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK I1268V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209820T>C |
cDNA | c.3802A>G |
Protein | p.I1268V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29209820T>C | c.3802A>G | p.I1268V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29209820T>C | c.3802A>G | p.I1268V | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29209820T>C | c.3802A>G | p.I1268V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK I1268V | unknown | |
EML4 - ALK ALK E1154K ALK G1202R ALK I1268V |