Varaico: Literature-Extracted Genetic Variants

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region

ABC_tranaa 441–576UCSCABC transporter

CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain

ABC_membraneaa 862–1147UCSCABC transporter transmembrane region

ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000492.4

p.C225*

c.675T>A

Surrounding Variants

5 papers

NM_000492.4

p.C225Y

c.674G>A

2 papers

NM_000492.4

p.G226R

c.676G>A

9 papers

NM_000492.4

p.C225S

c.674G>C

2 papers

NM_000492.4

p.G226R

c.676G>C

3 papers

NM_000492.4

p.G226E

c.677G>A

2 papers

NM_000492.4

p.G226A

c.677G>C

9 papers

NM_000492.4

p.C225S

c.673T>A

22 papers

NM_000492.4

p.C225R

c.673T>C

6 papers

NM_000492.4

p.F224L

c.672C>A

6 papers

NM_000492.4

p.F224L

c.672C>G

1 paper

NM_000492.4

p.L227insFs

c.679_680insAG

6 papers

NM_000492.4

p.L227_G228insT

c.679_683ins3