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

6 papers

NM_000492.4

p.S1231fs

c.3691_3692fs

Surrounding Variants

1 paper

NM_000492.4

p.S1231A

c.3691T>G

1 paper

NM_000492.4

p.S1231fs

c.3691_3692fs

1 paper

NM_000492.4

p.S1231F

c.3692C>T

3 papers

NM_000492.4

p.I1230T

c.3689T>C

1 paper

NM_000492.4

p.S1231_S1235del5

c.3691_3704del15

29 papers

NM_000492.4

p.S1231delFs

c.3691delT

5 papers

NM_000492.4

p.N1229K

c.3687C>A

5 papers

NM_000492.4

p.N1229K

c.3687C>G

1 paper

NM_000492.4

p.F1232C

c.3695T>G

1 paper

NM_000492.4

p.S1233A

c.3697T>G

5 papers

NM_000492.4

p.I1234del1

c.3700_3701delATA

7 papers

NM_000492.4

p.E1228G

c.3683A>G