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.F143fs

c.427_428fs

Surrounding Variants

2 papers

NM_000492.4

p.F143V

c.427T>G

1 paper

NM_000492.4

p.F143insFs

c.427_428insA

1 paper

NM_000492.4

p.F143C

c.428T>G

2 papers

NM_000492.4

p.F143F

c.429T>C

2 papers

NM_000492.4

p.I142S

c.425T>G

1 paper

NM_000492.4

p.I142fs

c.424_425fs

1 paper

NM_000492.4

p.F143insFs

c.429dupT

3 papers

NM_000492.4

p.I142V

c.424A>G

1 paper

NM_000492.4

p.I142F

c.424A>T

5 papers

NM_000492.4

p.I142delFs

c.425delT

1 paper

NM_000492.4

p.G144C

c.430G>T

1 paper

NM_000492.4

p.A141A

c.423C>A