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

4 papers

NM_000492.4

p.F1300L

c.3900T>G

Surrounding Variants

4 papers

NM_000492.4

p.F1300L

c.3900T>A

1 paper

NM_000492.4

p.R1301fs

c.3901_3902fs

1 paper

NM_000492.4

p.F1300Y

c.3899T>A

2 papers

NM_000492.4

p.R1301_Y1307del7

c.3901_3920del21

9 papers

NM_000492.4

p.N1303insFs

c.3908dupA

12 papers

NM_000492.4

p.N1303delFs

c.3908delA

4 papers

NM_000492.4

p.F1300L

c.3898T>C

17 papers

NM_000492.4

p.F1300insFs

c.3898_3899insC

8 papers

NM_000492.4

p.T1299T

c.3897A>G

1 paper

NM_000492.4

p.K1302Q

c.3904A>C

7 papers

NM_000492.4

p.K1302*

c.3904A>T

5 papers

NM_000492.4

p.T1299K

c.3896C>A