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

1–12 of 7656 variants

4808 papers

NM_000492.4

p.F508del1

c.1522_1523delTTT

2877 papers

NM_000492.4

p.G551D

c.1652G>A

2077 papers

NM_000492.4

p.G542*

c.1624G>T

1770 papers

NM_000492.4

p.R117H

c.350G>A

1663 papers

NM_000492.4

p.W1282*

c.3846G>A

1649 papers

NM_000492.4

p.W1282*

c.3845G>A

1587 papers

NM_000492.4

p.N1303K

c.3909C>G

1575 papers

NM_000492.4

p.N1303K

c.3909C>A

1197 papers

NM_000492.4

p.R553*

c.1657C>T

843 papers

NM_000492.4

p.R334W

c.1000C>T

748 papers

NM_000492.4

p.R1162*

c.3484C>T

733 papers

NM_000492.4

p.R347P

c.1040G>C