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

3 papers

NM_000492.4

p.G1343insFs

c.4028dupG

Surrounding Variants

1 paper

NM_000492.4

p.D1341E

c.4023T>G

4 papers

NM_000492.4

p.G1343delFs

c.4028delG

16 papers

NM_000492.4

p.D1341insFs

c.4022_4023insT

1 paper

NM_000492.4

p.D1341G

c.4022A>G

1 paper

NM_000492.4

p.D1341delFs

c.4023delT

1 paper

NM_000492.4

p.D1341insFs

c.4021_4022insT

5 papers

NM_000492.4

p.G1343S

c.4027G>A

1 paper

NM_000492.4

p.G1343fs

c.4027_4028fs

2 papers

NM_000492.4

p.V1340E

c.4019T>A

1 paper

NM_000492.4

p.V1340A

c.4019T>C

1 paper

NM_000492.4

p.G1343D

c.4028G>A

1 paper

NM_000492.4

p.G1343A

c.4028G>C