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.Q414_N415ins1

c.1242_1243insAAC

Surrounding Variants

1 paper

NM_000492.4

p.Q414_N415insFs

c.1242_1243ins7

2 papers

NM_000492.4

p.N415_N416insTA

c.1243_1247ins6

2 papers

NM_000492.4

p.Q414P

c.1241A>C

4 papers

NM_000492.4

p.N415D

c.1243A>G

1 paper

NM_000492.4

p.Q414R

c.1241A>G

1 paper

NM_000492.4

p.N415T

c.1244A>C

2 papers

NM_000492.4

p.Q414K

c.1240C>A

1 paper

NM_000492.4

p.N415ins2

c.1243_1244ins6

8 papers

NM_000492.4

p.Q414_N415insCTA

c.1240_1244ins9

28 papers

NM_000492.4

p.Q414*

c.1240C>T

2 papers

NM_000492.4

p.N415delFs

c.1244delA

1 paper

NM_000492.4

p.N416H

c.1246A>C