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

15 papers

NM_000492.4

p.R289*

c.865A>T

Surrounding Variants

1 paper

NM_000492.4

p.R289fs

c.865_866fs

4 papers

NM_000492.4

p.R289G

c.865A>G

3 papers

NM_000492.4

p.R289fs

c.865_866fs

1 paper

NM_000492.4

p.R289T

c.866G>C

1 paper

NM_000492.4

p.R289I

c.866G>T

1 paper

NM_000492.4

p.R289delFs

c.867delA

1 paper

NM_000492.4

p.R289R

c.867A>G

6 papers

NM_000492.4

p.R289_Q290delFs

c.865_869del5

2 papers

NM_000492.4

p.Q290E

c.868C>G

27 papers

NM_000492.4

p.Q290*

c.868C>T

17 papers

NM_000492.4

p.N287K

c.861C>A

17 papers

NM_000492.4

p.N287K

c.861C>G