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 | F1271L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK F1271L lies within the protein kinase domain of the Alk protein (UniProt.org). F1271L is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK F1271L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209811A>G |
cDNA | c.3811T>C |
Protein | p.F1271L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29209811A>G | c.3811T>C | p.F1271L | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29209811A>G | c.3811T>C | p.F1271L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK F1271L | unknown |