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

50 papers

NM_000492.4

p.Q1476*

c.4426C>T

Surrounding Variants

14 papers

NM_000492.4

p.Q1476_D1477insFs

c.4428_4429insGA

5 papers

NM_000492.4

p.D1477_T1478del2

c.4429_4433del6

1 paper

NM_000492.4

p.V1475V

c.4425G>A

1 paper

NM_000492.4

p.Q1476insFs

c.4426_4427insC

1 paper

NM_000492.4

p.Q1476del1

c.4426_4427delCAA

1 paper

NM_000492.4

p.Q1476_D1477insFs

c.4428_4429insAG

9 papers

NM_000492.4

p.V1475M

c.4423G>A

1 paper

NM_000492.4

p.V1475L

c.4423G>C

1 paper

NM_000492.4

p.V1475L

c.4423G>T

1 paper

NM_000492.4

p.D1477G

c.4430A>G

1 paper

NM_000492.4

p.D1477D

c.4431T>C

4 papers

NM_000492.4

p.E1474*

c.4420G>T