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.F400delFs

c.1198delT

Surrounding Variants

2 papers

NM_000492.4

p.F400_W401del0

c.1198_1203del6

5 papers

NM_000492.4

p.A399D

c.1196C>A

5 papers

NM_000492.4

p.A399G

c.1196C>G

8 papers

NM_000492.4

p.A399V

c.1196C>T

1 paper

NM_000492.4

p.A399T

c.1195G>A

5 papers

NM_000492.4

p.F400S

c.1199T>C

1 paper

NM_000492.4

p.A399delFs

c.1195delG

1 paper

NM_000492.4

p.F400L

c.1200C>A

3 papers

NM_000492.4

p.T398K

c.1193C>A

4 papers

NM_000492.4

p.T398I

c.1193C>T

2 papers

NM_000492.4

p.W401R

c.1201T>A

2 papers

NM_000492.4

p.W401R

c.1201T>C