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.V345delFs

c.1033delG

Surrounding Variants

1 paper

NM_000492.4

p.I344I

c.1032T>A

2 papers

NM_000492.4

p.V345L

c.1033G>C

3 papers

NM_000492.4

p.I344T

c.1031T>C

1 paper

NM_000492.4

p.I344V

c.1030A>G

2 papers

NM_000492.4

p.V345A

c.1034T>C

18 papers

NM_000492.4

p.C343*

c.1029C>A

1 paper

NM_000492.4

p.V345V

c.1035T>C

2 papers

NM_000492.4

p.L346L

c.1036C>T

1 paper

NM_000492.4

p.L346fs

c.1036_1037fs

9 papers

NM_000492.4

p.C343S

c.1028G>C

1 paper

NM_000492.4

p.C343_I344insFs

c.1029_1030insC

4 papers

NM_000492.4

p.C343F

c.1028G>T