Introducing CFTR as a Very Important Pharmacogene (VIP)

Variants within the CFTR gene underlie Cystic Fibrosis (CF). Traditionally, drugs used in the treatment of this disease have focused on ameliorating symptoms, fighting infection, thinning mucus and dampening inflammation. Now, drug development is focusing on pharmaceuticals that correct the underlying CFTR defect. The PharmGKB CFTR VIP summary describes potential treatment strategies that target defects conferred by particular classes of CFTR variants.

Read VIP information about these CFTR variants: 

• F508del-CFTR is prematurely degraded, failing to reach the plasma membrane. 

          Variants resulting in CFTR gating defects:

• G551D
• S549N
• G1244E 
• G1349D
• G178R
• G551S
• S1251N
• S1255P
• S549R(A>C) and S549R(T>G)