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.F976C

c.2927T>G

Surrounding Variants

3 papers

NM_000492.4

p.F976S

c.2927T>C

1 paper

NM_000492.4

p.F976L

c.2928C>A

1 paper

NM_000492.4

p.F976L

c.2928C>G

1 paper

NM_000492.4

p.F976L

c.2926T>C

1 paper

NM_000492.4

p.R975S

c.2925A>C

1 paper

NM_000492.4

p.R975S

c.2925A>T

7 papers

NM_000492.4

p.S977P

c.2929T>C

4 papers

NM_000492.4

p.S977A

c.2929T>G

2 papers

NM_000492.4

p.S977insFs

c.2929_2930insA

3 papers

NM_000492.4

p.S977C

c.2930C>G

81 papers

NM_000492.4

p.S977F

c.2930C>T

1 paper

NM_000492.4

p.S977S

c.2931C>T