Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225285
rs863225285
ALK
0.020 GeneticVariation BEFREE Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations. 29638111

2018
dbSNP: rs863225285
rs863225285
ALK
0.020 GeneticVariation BEFREE Our results show that the Y1278S mutant observed in patients with neuroblastoma harbors gain-of-function activity. 29084134

2017