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.K1389R

c.4166A>G

Surrounding Variants

8 papers

NM_000492.4

p.Q1390*

c.4168C>T

3 papers

NM_000492.4

p.Q1390delFs

c.4170delA

2 papers

NM_000492.4

p.Q1390R

c.4169A>G

6 papers

NM_000492.4

p.L1388Q

c.4163T>A

2 papers

NM_000492.4

p.L1388P

c.4163T>C

1 paper

NM_000492.4

p.L1388I

c.4162C>A

4 papers

NM_000492.4

p.L1388V

c.4162C>G

2 papers

NM_000492.4

p.L1388_K1389delFs

c.4163_4167del5

1 paper

NM_000492.4

p.A1391T

c.4171G>A

1 paper

NM_000492.4

p.A1391insFs

c.4171_4172insA

1 paper

NM_000492.4

p.T1387_L1388insFs

c.4161_4162ins4

3 papers

NM_000492.4

p.T1387insFs

c.4160_4161insG