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

2 papers

NM_000492.4

p.L1430Q

c.4289T>A

Surrounding Variants

1 paper

NM_000492.4

p.K1429R

c.4286A>G

1 paper

NM_000492.4

p.N1432fs

c.4294_4295fs

1 paper

NM_000492.4

p.N1432delFs

c.4296delC

8 papers

NM_000492.4

p.N1432K

c.4296C>A

10 papers

NM_000492.4

p.R1434insFs

c.4300_4301dupAG

8 papers

NM_000492.4

p.N1432K

c.4296C>G

2 papers

NM_000492.4

p.E1433_R1434del2

c.4297_4301del6

1 paper

NM_000492.4

p.I1427I

c.4281C>T

10 papers

NM_000492.4

p.E1433K

c.4297G>A

3 papers

NM_000492.4

p.E1433*

c.4297G>T

2 papers

NM_000492.4

p.E1433G

c.4298A>G

1 paper

NM_000492.4

p.I1427T

c.4280T>C