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

19 papers

NM_000492.4

p.G194R

c.580G>A

Surrounding Variants

19 papers

NM_000492.4

p.G194R

c.580G>C

6 papers

NM_000492.4

p.G194*

c.580G>T

3 papers

NM_000492.4

p.G194delFs

c.581_582delGA

1 paper

NM_000492.4

p.G194fs

c.580_581fs

1 paper

NM_000492.4

p.E193_G194Splc

c.580-1G>A

1 paper

NM_000492.4

p.G194E

c.581G>A

32 papers

NM_000492.4

p.E193_G194Splc

c.580-1G>T

21 papers

NM_000492.4

p.G194V

c.581G>T

2 papers

NM_000492.4

p.G194_L195insFs

c.582_583insG

2 papers

NM_000492.4

p.E193_G194Splc

c.580-2A>C

6 papers

NM_000492.4

p.E193_G194Splc

c.580-2A>G

4 papers

NM_000492.4

p.L195delFs

c.583delC