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

3 papers

NM_000492.4

p.G673R

c.2017G>A

Surrounding Variants

3 papers

NM_000492.4

p.G673R

c.2017G>C

1 paper

NM_000492.4

p.G673_D674insFs

c.2018_2021dup4

27 papers

NM_000492.4

p.G673*

c.2017G>T

1 paper

NM_000492.4

p.G673E

c.2018G>A

1 paper

NM_000492.4

p.G673V

c.2018G>T

1 paper

NM_000492.4

p.E672G

c.2015A>G

1 paper

NM_000492.4

p.E672_G673del1

c.2016_2018delAGG

7 papers

NM_000492.4

p.E672K

c.2014G>A

3 papers

NM_000492.4

p.E672Q

c.2014G>C

4 papers

NM_000492.4

p.D674Y

c.2020G>T

1 paper

NM_000492.4

p.D674A

c.2021A>C

1 paper

NM_000492.4

p.D674G

c.2021A>G