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.Q1313H

c.3939A>T

Surrounding Variants

7 papers

NM_000492.4

p.E1314delFs

c.3940delG

4 papers

NM_000492.4

p.I1315_K1317delFs

c.3944_3951del8

4 papers

NM_000492.4

p.E1314K

c.3940G>A

1 paper

NM_000492.4

p.E1314*

c.3940G>T

8 papers

NM_000492.4

p.Q1313K

c.3937C>A

1 paper

NM_000492.4

p.Q1313insFs

c.3937_3938insG

51 papers

NM_000492.4

p.Q1313*

c.3937C>T

10 papers

NM_000492.4

p.D1312G

c.3935A>G

4 papers

NM_000492.4

p.I1315M

c.3945A>G

1 paper

NM_000492.4

p.S1311R

c.3933T>G

5 papers

NM_000492.4

p.S1311N

c.3932G>A

3 papers

NM_000492.4

p.S1311Fs

c.3932_3933delinsAATATGFs