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

18 papers

NM_000492.4

p.V562L

c.1684G>C

Surrounding Variants

84 papers

NM_000492.4

p.V562I

c.1684G>A

17 papers

NM_000492.4

p.V562L

c.1684G>T

1 paper

NM_000492.4

p.V562fs

c.1684_1685fs

1 paper

NM_000492.4

p.V562E

c.1685T>A

5 papers

NM_000492.4

p.V562A

c.1685T>C

117 papers

NM_000492.4

p.A561E

c.1682C>A

6 papers

NM_000492.4

p.A561V

c.1682C>T

8 papers

NM_000492.4

p.A561T

c.1681G>A

2 papers

NM_000492.4

p.A561insFs

c.1682dupC

1 paper

NM_000492.4

p.A561S

c.1681G>T

55 papers

NM_000492.4

p.Y563N

c.1687T>A

4 papers

NM_000492.4

p.Y563H

c.1687T>C