Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922525
rs193922525
0.840 GeneticVariation BEFREE We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF. 28655774

2017

dbSNP: rs193922525
rs193922525
0.840 GeneticVariation BEFREE However, mutations that disrupt the interaction of ATP with ATP-binding site 1, including K464A, D572N and the CF-associated mutation G1349D all abolished the prolongation of τ<sub>cf</sub> at pH<sub>i</sub> 6.3. 27779763

2017

dbSNP: rs193922525
rs193922525
0.840 GeneticVariation BEFREE We conclude that G551D- and G1349D-CFTR have distinct pharmacological profiles and speculate that drug therapy for CF is likely to be mutation-specific. 16311240

2006

dbSNP: rs193922525
rs193922525
0.840 GeneticVariation BEFREE The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein. 15163550

2004