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

6 papers

NM_000492.4

p.N847S

c.2540A>G

Surrounding Variants

1 paper

NM_000492.4

p.N847N

c.2541C>T

100 papers

NM_000492.4

p.W846*

c.2538G>A

2 papers

NM_000492.4

p.N847delFs

c.2540delA

100 papers

NM_000492.4

p.W846*

c.2537G>A

1 paper

NM_000492.4

p.T848T

c.2544A>G

2 papers

NM_000492.4

p.W846delFs

c.2538delG

1 paper

NM_000492.4

p.W846insFs

c.2537_2538insTG

1 paper

NM_000492.4

p.W846del1

c.2536_2537delTGG

3 papers

NM_000492.4

p.Y849H

c.2545T>C

1 paper

NM_000492.4

p.Y849C

c.2546A>G

2 papers

NM_000492.4

p.T845_W846insA

c.2533_2537ins3

32 papers

NM_000492.4

p.Y849*

c.2547C>A