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

2 papers

NM_000492.4

p.V1360fs

c.4078_4079fs

Surrounding Variants

1 paper

NM_000492.4

p.V1360fs

c.4078_4079fs

4 papers

NM_000492.4

p.V1360delFs

c.4078delG

11 papers

NM_000492.4

p.S1359_V1360Fs

c.4077_4080delinsAAFs

2 papers

NM_000492.4

p.V1360_L1361insFs

c.4080_4081insGG

2 papers

NM_000492.4

p.L1361V

c.4081C>G

6 papers

NM_000492.4

p.S1359A

c.4075T>G

3 papers

NM_000492.4

p.R1358S

c.4074A>C

3 papers

NM_000492.4

p.R1358S

c.4074A>T

1 paper

NM_000492.4

p.R1358K

c.4073G>A

3 papers

NM_000492.4

p.R1358T

c.4073G>C

2 papers

NM_000492.4

p.R1358I

c.4073G>T

2 papers

NM_000492.4

p.S1362N

c.4085G>A