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

5 papers

NM_000492.4

p.D443delFs

c.1328_1329delAT

Surrounding Variants

1 paper

NM_000492.4

p.D443N

c.1327G>A

2 papers

NM_000492.4

p.D443fs

c.1327_1328fs

71 papers

NM_000492.4

p.D443Y

c.1327G>T

2 papers

NM_000492.4

p.D443fs

c.1327_1328fs

1 paper

NM_000492.4

p.K442K

c.1326A>G

18 papers

NM_000492.4

p.D443_I444insFs

c.1329_1330ins4

1 paper

NM_000492.4

p.K442R

c.1325A>G

1 paper

NM_000492.4

p.D443D

c.1329T>C

1 paper

NM_000492.4

p.I444fs

c.1330_1331fs

4 papers

NM_000492.4

p.K442*

c.1324A>T

4 papers

NM_000492.4

p.I444F

c.1330A>T

4 papers

NM_000492.4

p.I444fs

c.1330_1331fs