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

5 papers

NM_000492.4

p.E695G

c.2084A>G

Surrounding Variants

3 papers

NM_000492.4

p.E695K

c.2083G>A

11 papers

NM_000492.4

p.R697insFs

c.2089dupA

3 papers

NM_000492.4

p.R697delFs

c.2089delA

4 papers

NM_000492.4

p.E695fs

c.2083_2084fs

2 papers

NM_000492.4

p.G694G

c.2082G>A

6 papers

NM_000492.4

p.K696R

c.2087A>G

1 paper

NM_000492.4

p.G694fs

c.2080_2081fs

2 papers

NM_000492.4

p.R697fs

c.2089_2090fs

1 paper

NM_000492.4

p.R697G

c.2089A>G

2 papers

NM_000492.4

p.R697delFs

c.2091delG

2 papers

NM_000492.4

p.R697fs

c.2089_2090fs

19 papers

NM_000492.4

p.F693L

c.2079T>A