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.Y380*

c.1140T>G

Surrounding Variants

1 paper

NM_000492.4

p.Y380*

c.1140T>A

1 paper

NM_000492.4

p.K381insFs

c.1141_1142ins4

1 paper

NM_000492.4

p.K381delFs

c.1141_1142delAA

2 papers

NM_000492.4

p.Y380C

c.1139A>G

8 papers

NM_000492.4

p.K381*

c.1141A>T

16 papers

NM_000492.4

p.Y380insFs

c.1138_1139insG

6 papers

NM_000492.4

p.E379D

c.1137A>C

6 papers

NM_000492.4

p.E379D

c.1137A>T

1 paper

NM_000492.4

p.K381K

c.1143G>A

1 paper

NM_000492.4

p.K381N

c.1143G>C

1 paper

NM_000492.4

p.K381N

c.1143G>T

1 paper

NM_000492.4

p.T382fs

c.1144_1145fs