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 | F1174C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1174C lies within the protein kinase domain of the Alk protein (UniProt.org). F1174C confers a gain of function to Alk, as indicated by constitutive Alk phosphorylation in cell culture (PMID: 24509625, PMID: 22072639). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK F1174C ALK mutant ALK F1174X ALK F1174C |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220830A>C |
cDNA | c.3521T>G |
Protein | p.F1174C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220830A>C | c.3521T>G | p.F1174C | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220830A>C | c.3521T>G | p.F1174C | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220830A>C | c.3521T>G | p.F1174C | RefSeq | GRCh38/hg38 |