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.T844delFs

c.2530delA

Surrounding Variants

1 paper

NM_000492.4

p.T844_T845insA

c.2530_2534ins3

1 paper

NM_000492.4

p.T844A

c.2530A>G

1 paper

NM_000492.4

p.T844S

c.2531C>G

1 paper

NM_000492.4

p.V843M

c.2527G>A

2 papers

NM_000492.4

p.T845_W846insA

c.2533_2537ins3

2 papers

NM_000492.4

p.A842E

c.2525C>A

1 paper

NM_000492.4

p.W846insFs

c.2537_2538insTG

1 paper

NM_000492.4

p.W846del1

c.2536_2537delTGG

1 paper

NM_000492.4

p.P841insFs

c.2522_2523insA

5 papers

NM_000492.4

p.P841R

c.2522C>G

2 papers

NM_000492.4

p.W846delFs

c.2538delG

100 papers

NM_000492.4

p.W846*

c.2537G>A