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

7 papers

NM_000492.4

p.S1426P

c.4276T>C

Surrounding Variants

1 paper

NM_000492.4

p.S1426A

c.4276T>G

3 papers

NM_000492.4

p.S1426Y

c.4277C>A

10 papers

NM_000492.4

p.S1426F

c.4277C>T

1 paper

NM_000492.4

p.D1425A

c.4274A>C

1 paper

NM_000492.4

p.D1425G

c.4274A>G

43 papers

NM_000492.4

p.I1427insFs

c.4279_4280insA

1 paper

NM_000492.4

p.I1427insFs

c.4279_4280insTC

2 papers

NM_000492.4

p.D1425N

c.4273G>A

4 papers

NM_000492.4

p.Y1424*

c.4272C>A

4 papers

NM_000492.4

p.Y1424*

c.4272C>G

7 papers

NM_000492.4

p.Y1424Y

c.4272C>T

1 paper

NM_000492.4

p.I1427T

c.4280T>C