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.V440L

c.1318G>C

Surrounding Variants

1 paper

NM_000492.4

p.P439R

c.1316C>G

2 papers

NM_000492.4

p.P439T

c.1315C>A

3 papers

NM_000492.4

p.P439A

c.1315C>G

8 papers

NM_000492.4

p.P439S

c.1315C>T

15 papers

NM_000492.4

p.L441P

c.1322T>C

1 paper

NM_000492.4

p.P439insFs

c.1316dupC

3 papers

NM_000492.4

p.D443_R450delFs

c.1329_1350del22

1 paper

NM_000492.4

p.T438insFs

c.1313_1314insA

3 papers

NM_000492.4

p.L441_K442insFs

c.1323_1324insA

22 papers

NM_000492.4

p.T438A

c.1312A>G

4 papers

NM_000492.4

p.K442*

c.1324A>T

18 papers

NM_000492.4

p.D443_I444insFs

c.1329_1330ins4