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.V1008fs

c.3022_3023fs

Surrounding Variants

1 paper

NM_000492.4

p.V1008fs

c.3022_3023fs

5 papers

NM_000492.4

p.V1008D

c.3023T>A

4 papers

NM_000492.4

p.V1008delFs

c.3022delG

1 paper

NM_000492.4

p.V1008V

c.3024C>T

1 paper

NM_000492.4

p.V1007insFs

c.3020_3021insC

17 papers

NM_000492.4

p.A1009T

c.3025G>A

2 papers

NM_000492.4

p.V1007insFs

c.3021dupT

1 paper

NM_000492.4

p.V1007Fs

c.3019delinsTTFs

2 papers

NM_000492.4

p.V1007delFs

c.3021delT

1 paper

NM_000492.4

p.V1007fs

c.3019_3020fs

1 paper

NM_000492.4

p.A1009G

c.3026C>G

1 paper

NM_000492.4

p.A1009V

c.3026C>T