Gene Information
CF transmembrane conductance regulator [Source:HGNC Symbol;Acc:HGNC:1884]
CFTR variants are associated with 5 diseases including aquagenic palmoplantar keratoderma and idiopathic bronchiectasis and 3 others, with 38 documented clinical phenotypes.
The CFTR gene is associated with 5 medical conditions, including:
Research has identified 38 phenotypic features associated with CFTR variants:
Hyperpolarized transepithelial nasal potential difference
HP:6000100
Asthma
HP:0002099
Clubbing of fingers
HP:0100759
Elevated sweat chloride
HP:0012236
Diarrhea
HP:0002014
Infantile onset
HP:0003593
Recurrent pneumonia
HP:0006532
Dehydration
HP:0001944
Failure to thrive
HP:0001508
Hepatosplenomegaly
HP:0001433
Biliary cirrhosis
HP:0002613
Recurrent bronchopulmonary infections
HP:0006538
Chronic sinusitis
HP:0011109
Male infertility
HP:0003251
Nasal polyposis
HP:0100582
ClinVar contains 10 variants associated with CFTR. Below are some notable variants:
NM_000492.4(CFTR):c.1022C>A (p.Ser341Ter)
Likely pathogenicVCV004294462
Review: criteria provided, single submitter
NM_000492.4(CFTR):c.4028dup (p.Cys1344fs)
PathogenicVCV004281688
Review: criteria provided, single submitter
NM_000492.4(CFTR):c.2620-2A>T
Likely pathogenicVCV004280623
Review: criteria provided, single submitter
NM_000492.4(CFTR):c.2490+311_2619+359del
Likely pathogenicVCV004280112
Review: criteria provided, single submitter
NM_000492.4(CFTR):c.2908+1086_3367+260del
PathogenicVCV004280076
Review: criteria provided, single submitter
There are 4,260 publications about CFTR indexed in PubMed. Below are some recent papers:
In vivo conformational space and defects of misfolded CFTR variants by covalent protein painting.
Pankow S, Bamberger TC, Martínez-Bartolomé S
PMID: 41258017
•
2025 Nov 19
•
Nat Commun
Gender Differences in Mental Well-Being Among Children and Adults With Cystic Fibrosis in the Modulator Era.
Georgiopoulos AM, Van Citters AD, Brown CD
PMID: 41257395
•
2025 Nov
•
Pediatr Pulmonol
Academic-Industrial Collaboration in Synthesis with Real-Time Impact in Medicinal Chemistry: Discovery of Cystic Fibrosis C2 Corrector ABBV-602.
Voight EA, Gong W, Hardee DJ
PMID: 41256986
•
2025 Nov 13
•
ACS Med Chem Lett
The Regional Landscape of the Human Colon Culturome in Health and Cystic Fibrosis.
Surve SV, Valls RA, Barrack KE
PMID: 41256617
•
2025 Sep 29
•
bioRxiv
Generation of Region-specific Airway Basal Stem Cells from Human Pluripotent Stem Cells via Regulation of BMP-NOGGIN Axis.
Suzuki S, Acosta Sandoval NV, Doddipalli S
PMID: 41256445
•
2025 Oct 1
•
bioRxiv
Get instant, comprehensive insights on CFTR variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025