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.C1344Y

c.4031G>A

Surrounding Variants

10 papers

NM_000492.4

p.C1344S

c.4031G>C

10 papers

NM_000492.4

p.C1344S

c.4030T>A

1 paper

NM_000492.4

p.C1344*

c.4032T>A

1 paper

NM_000492.4

p.C1344_V1345insC

c.4030_4034ins3

3 papers

NM_000492.4

p.V1345delFs

c.4033_4034delGT

1 paper

NM_000492.4

p.G1343D

c.4028G>A

1 paper

NM_000492.4

p.G1343A

c.4028G>C

8 papers

NM_000492.4

p.G1343V

c.4028G>T

1 paper

NM_000492.4

p.V1345A

c.4034T>C

2 papers

NM_000492.4

p.L1346insFs

c.4036dupC

8 papers

NM_000492.4

p.V1345_L1346insFs

c.4035_4038dup4

6 papers

NM_000492.4

p.L1346_H1348delFs

c.4036_4042del7