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.R668L

c.2003G>T

Surrounding Variants

8 papers

NM_000492.4

p.R668H

c.2003G>A

200 papers

NM_000492.4

p.R668C

c.2002C>T

1 paper

NM_000492.4

p.R668_F669Fs

c.2002_2006delinsAGAFs

2 papers

NM_000492.4

p.F669L

c.2005T>C

15 papers

NM_000492.4

p.H667R

c.2000A>G

2 papers

NM_000492.4

p.F669L

c.2007C>A

2 papers

NM_000492.4

p.H667D

c.1999C>G

2 papers

NM_000492.4

p.F669L

c.2007C>G

4 papers

NM_000492.4

p.H667Y

c.1999C>T

3 papers

NM_000492.4

p.S670A

c.2008T>G

1 paper

NM_000492.4

p.S670insFs

c.2010dupA

2 papers

NM_000492.4

p.S670L

c.2009C>T