Created by an international team of researchers with CF Foundation support, CFTR2 is a website that provides information about specific mutations in the CF gene. The online resource is designed for people with cystic fibrosis (CF) and their families, researchers, health professionals and the general public.

CFTR2 aims to determine the relationships between specific mutations and symptoms of CF. The website uses a database containing information from nearly 40,000 people with CF, collected by CF patient registries and care centers around the world.

Different CF mutations are associated with varying symptoms of the disease. Some mutations in the CF gene do not cause the symptoms associated with cystic fibrosis.

Researchers have discovered more than 1,800 mutations in the CF gene; the CFTR2 website currently provides information on the 160 most common mutations.

For each mutation included, users can search for information such as lung function and sweat chloride levels in people who have that mutation.

The project is a collaboration between the Cystic Fibrosis Foundation; Johns Hopkins University, Baltimore; the Hospital for Sick Children, Toronto; and the Cystic Fibrosis Centre, Verona, Italy.

Visit the CFTR2 website at

Additional Resources

Updated 8/1/2012