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.G1061fs

c.3181_3182fs

Surrounding Variants

49 papers

NM_000492.4

p.G1061R

c.3181G>A

49 papers

NM_000492.4

p.G1061R

c.3181G>C

1 paper

NM_000492.4

p.K1060K

c.3180A>G

1 paper

NM_000492.4

p.L1062_W1063insFs

c.3184_3188dup5

53 papers

NM_000492.4

p.K1060T

c.3179A>C

2 papers

NM_000492.4

p.K1060R

c.3179A>G

1 paper

NM_000492.4

p.G1061G

c.3183A>G

2 papers

NM_000492.4

p.K1060E

c.3178A>G

2 papers

NM_000492.4

p.L1059L

c.3177A>G

7 papers

NM_000492.4

p.L1059*

c.3176T>A

7 papers

NM_000492.4

p.L1059*

c.3176T>G

4 papers

NM_000492.4

p.K1060delFs

c.3180delA