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

3 papers

NM_000492.4

p.G970V

c.2909G>T

Surrounding Variants

79 papers

NM_000492.4

p.G970D

c.2909G>A

2 papers

NM_000492.4

p.G970Splc

c.2909-1G>A

3 papers

NM_000492.4

p.G970Splc

c.2909-1G>C

1 paper

NM_000492.4

p.G970Splc

c.2909-2A>C

2 papers

NM_000492.4

p.G970delFs

c.2909delG

2 papers

NM_000492.4

p.G971_L983delFs

c.2912_2948del37

3 papers

NM_000492.4

p.G971E

c.2912G>A

3 papers

NM_000492.4

p.G970Splc

c.2909-4A>G

1 paper

NM_000492.4

p.I972fs

c.2914_2915fs

2 papers

NM_000492.4

p.G970_R975insFs

c.2909_2924dup16

1 paper

NM_000492.4

p.G970Splc

c.2909-6T>C

1 paper

NM_000492.4

p.I972I

c.2916T>A