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

67 papers

NM_000492.4

p.W1316*

c.3947G>A

Surrounding Variants

66 papers

NM_000492.4

p.W1316*

c.3948G>A

1 paper

NM_000492.4

p.W1316_K1317insFs

c.3948_3949insT

5 papers

NM_000492.4

p.W1316R

c.3946T>A

5 papers

NM_000492.4

p.W1316R

c.3946T>C

4 papers

NM_000492.4

p.I1315M

c.3945A>G

1 paper

NM_000492.4

p.K1317E

c.3949A>G

1 paper

NM_000492.4

p.K1317insFs

c.3950_3951insT

1 paper

NM_000492.4

p.K1317R

c.3950A>G

7 papers

NM_000492.4

p.V1318A

c.3953T>C

1 paper

NM_000492.4

p.V1318G

c.3953T>G

4 papers

NM_000492.4

p.E1314K

c.3940G>A

1 paper

NM_000492.4

p.E1314*

c.3940G>T