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

1 paper

NM_000492.4

p.Q179R

c.536A>G

Surrounding Variants

2 papers

NM_000492.4

p.L180insFs

c.538_539insAC

1 paper

NM_000492.4

p.Q179Q

c.537A>G

1 paper

NM_000492.4

p.L180_V181del2

c.538_542del6

18 papers

NM_000492.4

p.Q179K

c.535C>A

1 paper

NM_000492.4

p.Q179_L180insFs

c.536_539dup4

5 papers

NM_000492.4

p.Q179*

c.535C>T

1 paper

NM_000492.4

p.L180_V181insFs

c.540_541insT

5 papers

NM_000492.4

p.L180V

c.538C>G

1 paper

NM_000492.4

p.L180F

c.538C>T

16 papers

NM_000492.4

p.G178E

c.533G>A

2 papers

NM_000492.4

p.L180P

c.539T>C

296 papers

NM_000492.4

p.G178R

c.532G>A