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Gene

CFTR

CF transmembrane conductance regulator

CFTR is the blueprint for a small door in your cells that lets salt and water out. Cystic fibrosis happens when both copies have a typo that breaks the door. Which typo a person has now decides which medicines can help.

Medicines it changes

• Elexacaftor/tezacaftor/ivacaftor (Trikafta) · CFTR modulator
• Ivacaftor · CFTR modulator
• Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek) · CFTR modulator

What prescribing experts say about CFTR (2)

CPIC, the international group that writes gene-based prescribing guidelines, rates how strong the evidence is for each gene and medicine, from A (strong enough to change the prescription) to D (weak or conflicting). Every rating is shown, the weak ones included, so you can see where the evidence stops.

• ivacaftor · level A: strong enough to change the prescription
• ataluren · level C: not enough to change the prescription (provisional)

Source: CPIC (Clinical Pharmacogenetics Implementation Consortium), public domain (CC0), copy kept on this site and refreshed weekly.

Conditions it is linked to

• Acute Pancreatitis
• Age-Related Macular Degeneration
• Cholesterol (LDL, HDL and Total)
• Cystic Fibrosis
• Oesophageal Cancer

Variants inside CFTR (504)

• rs113812546 · Acute pancreatitis
• rs17451754 · Barrett's esophagus or Esophageal adenocarcinoma
• rs1324592887 · Bronchiectasis with or without elevated sweat chloride 1
• rs1359327577 · Bronchiectasis with or without elevated sweat chloride 1
• rs1792647486 · Bronchiectasis with or without elevated sweat chloride 1
• rs2116226142 · Bronchiectasis with or without elevated sweat chloride 1
• rs2484968022 · Bronchiectasis with or without elevated sweat chloride 1
• rs1584786373 · CFTR-related disorder
• rs2485020199 · CFTR-related disorder
• rs1030725225 · Cystic fibrosis
• rs1057516232 · Cystic fibrosis
• rs1057516619 · Cystic fibrosis
• rs1057516646 · Cystic fibrosis
• rs1060503164 · Cystic fibrosis
• rs113993958 · Cystic fibrosis
• rs113993959 · Cystic fibrosis
• rs1165501753 · Cystic fibrosis
• rs121908748 · Cystic fibrosis
• rs121908749 · Cystic fibrosis
• rs121908750 · Cystic fibrosis
• rs121908751 · Cystic fibrosis
• rs121908754 · Cystic fibrosis
• rs121908755 · Cystic fibrosis
• rs121908758 · Cystic fibrosis
• rs121908760 · Cystic fibrosis
• rs121908761 · Cystic fibrosis
• rs121908763 · Cystic fibrosis
• rs121908764 · Cystic fibrosis
• rs121908765 · Cystic fibrosis
• rs121908766 · Cystic fibrosis
• rs121908791 · Cystic fibrosis
• rs121908792 · Cystic fibrosis
• rs121908793 · Cystic fibrosis
• rs121908794 · Cystic fibrosis
• rs121908796 · Cystic fibrosis
• rs121908797 · Cystic fibrosis
• rs121908800 · Cystic fibrosis
• rs121908802 · Cystic fibrosis
• rs121908803 · Cystic fibrosis
• rs121908805 · Cystic fibrosis
• rs121908810 · Cystic fibrosis
• rs121909005 · Cystic fibrosis
• rs121909006 · Cystic fibrosis
• rs121909008 · Cystic fibrosis
• rs121909009 · Cystic fibrosis
• rs121909010 · Cystic fibrosis
• rs121909011 · Cystic fibrosis
• rs121909012 · Cystic fibrosis
• rs121909015 · Cystic fibrosis
• rs121909016 · Cystic fibrosis
• rs121909017 · Cystic fibrosis
• rs121909018 · Cystic fibrosis
• rs121909019 · Cystic fibrosis
• rs121909020 · Cystic fibrosis
• rs121909023 · Cystic fibrosis
• rs121909025 · Cystic fibrosis
• rs121909026 · Cystic fibrosis
• rs121909031 · Cystic fibrosis
• rs121909033 · Cystic fibrosis
• rs121909034 · Cystic fibrosis
• rs121909036 · Cystic fibrosis
• rs121909037 · Cystic fibrosis
• rs121909040 · Cystic fibrosis
• rs121909042 · Cystic fibrosis
• rs121909045 · Cystic fibrosis
• rs121909047 · Cystic fibrosis
• rs1236277028 · Cystic fibrosis
• rs1258481099 · Cystic fibrosis
• rs1274368655 · Cystic fibrosis
• rs1290078234 · Cystic fibrosis
• rs1330431481 · Cystic fibrosis
• rs1351058559 · Cystic fibrosis
• rs139304906 · Cystic fibrosis
• rs139468767 · Cystic fibrosis
• rs139573311 · Cystic fibrosis
• rs139729994 · Cystic fibrosis
• rs1408746819 · Cystic fibrosis
• rs141158996 · Cystic fibrosis
• rs141482808 · Cystic fibrosis
• rs142394380 · Cystic fibrosis
• rs143570767 · Cystic fibrosis
• rs144055758 · Cystic fibrosis
• rs144781064 · Cystic fibrosis
• rs145449046 · Cystic fibrosis
• rs146521846 · Cystic fibrosis
• rs146795445 · Cystic fibrosis
• rs1470125842 · Cystic fibrosis
• rs148122007 · Cystic fibrosis
• rs149790377 · Cystic fibrosis
• rs150020260 · Cystic fibrosis
• rs151020603 · Cystic fibrosis
• rs151048781 · Cystic fibrosis
• rs1554380828 · Cystic fibrosis
• rs1554381596 · Cystic fibrosis
• rs1554381605 · Cystic fibrosis
• rs1554388867 · Cystic fibrosis
• rs1554389015 · Cystic fibrosis
• rs1554389062 · Cystic fibrosis
• rs1554389241 · Cystic fibrosis
• rs1554389290 · Cystic fibrosis
• rs1554389836 · Cystic fibrosis
• rs1554390859 · Cystic fibrosis
• rs1554390958 · Cystic fibrosis
• rs1554392023 · Cystic fibrosis
• rs1554392798 · Cystic fibrosis
• rs1554392801 · Cystic fibrosis
• rs1554396384 · Cystic fibrosis
• rs1554398510 · Cystic fibrosis
• rs1562876459 · Cystic fibrosis
• rs1562895128 · Cystic fibrosis
• rs1562907896 · Cystic fibrosis
• rs1562914641 · Cystic fibrosis
• rs1562923253 · Cystic fibrosis
• rs1562928997 · Cystic fibrosis
• rs1584776437 · Cystic fibrosis
• rs1584784895 · Cystic fibrosis
• rs1584787119 · Cystic fibrosis
• rs1584787716 · Cystic fibrosis
• rs1584789180 · Cystic fibrosis
• rs1584789514 · Cystic fibrosis
• rs1584790302 · Cystic fibrosis
• rs1584793546 · Cystic fibrosis
• rs1584793633 · Cystic fibrosis
• rs1584812425 · Cystic fibrosis
• rs1584812646 · Cystic fibrosis
• rs1584813819 · Cystic fibrosis
• rs1584821306 · Cystic fibrosis
• rs1584821736 · Cystic fibrosis
• rs1584824301 · Cystic fibrosis
• rs1584837090 · Cystic fibrosis
• rs1584837173 · Cystic fibrosis
• rs1791967656 · Cystic fibrosis
• rs1792036942 · Cystic fibrosis
• rs1792049376 · Cystic fibrosis
• rs1792051187 · Cystic fibrosis
• rs1792100143 · Cystic fibrosis
• rs1792307406 · Cystic fibrosis
• rs1792456313 · Cystic fibrosis
• rs1792935893 · Cystic fibrosis
• rs1792936385 · Cystic fibrosis
• rs1797973431 · Cystic fibrosis
• rs1798858347 · Cystic fibrosis
• rs1798962805 · Cystic fibrosis
• rs1799061745 · Cystic fibrosis
• rs1799216615 · Cystic fibrosis
• rs1799421850 · Cystic fibrosis
• rs1799425190 · Cystic fibrosis
• rs1800074 · Cystic fibrosis
• rs1800091 · Cystic fibrosis
• rs1800135 · Cystic fibrosis
• rs1801178 · Cystic fibrosis
• rs193922498 · Cystic fibrosis
• rs193922500 · Cystic fibrosis
• rs193922501 · Cystic fibrosis
• rs193922503 · Cystic fibrosis
• rs193922504 · Cystic fibrosis
• rs193922509 · Cystic fibrosis
• rs193922514 · Cystic fibrosis
• rs193922515 · Cystic fibrosis
• rs193922519 · Cystic fibrosis
• rs193922520 · Cystic fibrosis
• rs193922524 · Cystic fibrosis
• rs193922526 · Cystic fibrosis
• rs193922528 · Cystic fibrosis
• rs193922532 · Cystic fibrosis
• rs193922730 · Cystic fibrosis
• rs193922732 · Cystic fibrosis
• rs200955612 · Cystic fibrosis
• rs201124247 · Cystic fibrosis
• rs201978662 · Cystic fibrosis
• rs2115882158 · Cystic fibrosis
• rs2115938731 · Cystic fibrosis
• rs2116031354 · Cystic fibrosis
• rs2116033063 · Cystic fibrosis
• rs2116062284 · Cystic fibrosis
• rs2116678722 · Cystic fibrosis
• rs2116683801 · Cystic fibrosis
• rs2484929014 · Cystic fibrosis
• rs2484968431 · Cystic fibrosis
• rs2484975661 · Cystic fibrosis
• rs2485020029 · Cystic fibrosis
• rs2485026344 · Cystic fibrosis
• rs2485030309 · Cystic fibrosis
• rs2485065803 · Cystic fibrosis
• rs2485107275 · Cystic fibrosis
• rs2485107328 · Cystic fibrosis
• rs2485109059 · Cystic fibrosis
• rs2485110261 · Cystic fibrosis
• rs2485110958 · Cystic fibrosis
• rs2485122435 · Cystic fibrosis
• rs2485129118 · Cystic fibrosis
• rs2485129172 · Cystic fibrosis
• rs2485130489 · Cystic fibrosis
• rs2485146248 · Cystic fibrosis
• rs2485171208 · Cystic fibrosis
• rs2485185648 · Cystic fibrosis
• rs2485185956 · Cystic fibrosis
• rs113993960 · Cystic fibrosis (F508del)
• rs145380885 · Free Cholesterol to Cholesteryl Esters in Small HDL ratio
• rs121909043 · SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS

Showing 200 of 504. Search for all of them.

Questions about CFTR

How is cystic fibrosis inherited?

A child needs a broken copy of CFTR from both parents. A parent with one broken copy is a carrier and is usually healthy.

Why does the CFTR typo matter for treatment?

Medicines such as ivacaftor and Trikafta work on particular kinds of CFTR typos, so the variant decides who they can help.

See CFTR with everything it connects to on the Gene Knowledge Graph, or as data at /api/v1/genes/CFTR.

A gene page gathers published research; it is not a test result and not medical advice. If a gene matters to your health, talk to a doctor or a genetic counsellor.