Annotation Detail
Information
- Associated Genes
- MYCN
- Associated Variants
-
ALK p.Arg1275Gln (p.R1275Q)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Arg1275Gln (p.R1275Q) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Carcinogenesis
- Source Database
- DisGeNET
- Description
- The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
- Pubmed
- 24947326
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0100433492669712
- Year of publication
- 2015
Drugs