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

1 paper

NM_000492.4

p.G628E

c.1883G>A

Surrounding Variants

4 papers

NM_000492.4

p.G628A

c.1883G>C

52 papers

NM_000492.4

p.G628R

c.1882G>A

52 papers

NM_000492.4

p.G628R

c.1882G>C

1 paper

NM_000492.4

p.T629A

c.1885A>G

2 papers

NM_000492.4

p.Y627C

c.1880A>G

1 paper

NM_000492.4

p.T629I

c.1886C>T

1 paper

NM_000492.4

p.F626L

c.1878T>A

3 papers

NM_000492.4

p.F630L

c.1888T>C

1 paper

NM_000492.4

p.F626L

c.1878T>G

3 papers

NM_000492.4

p.F630L

c.1890T>A

1 paper

NM_000492.4

p.F626L

c.1876T>C

3 papers

NM_000492.4

p.F630L

c.1890T>G