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.K584E

c.1750A>G

Surrounding Variants

1 paper

NM_000492.4

p.K584Q

c.1750A>C

1 paper

NM_000492.4

p.K584I

c.1751A>T

3 papers

NM_000492.4

p.E583_K584insFs

c.1749_1750insTA

4 papers

NM_000492.4

p.E583G

c.1748A>G

2 papers

NM_000492.4

p.E585delFs

c.1753delG

1 paper

NM_000492.4

p.E585K

c.1753G>A

1 paper

NM_000492.4

p.E585Q

c.1753G>C

134 papers

NM_000492.4

p.E585*

c.1753G>T

1 paper

NM_000492.4

p.E583*

c.1747G>T

2 papers

NM_000492.4

p.E583delFs

c.1749delA

1 paper

NM_000492.4

p.E585G

c.1754A>G

8 papers

NM_000492.4

p.T582R

c.1745C>G