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.K283R

c.848A>G

Surrounding Variants

2 papers

NM_000492.4

p.M284fs

c.850_851fs

8 papers

NM_000492.4

p.E282D

c.846A>C

1 paper

NM_000492.4

p.M284V

c.850A>G

8 papers

NM_000492.4

p.E282D

c.846A>T

5 papers

NM_000492.4

p.M284fs

c.850_851fs

1 paper

NM_000492.4

p.M284_I285delFs

c.852_855del4

1 paper

NM_000492.4

p.E282A

c.845A>C

5 papers

NM_000492.4

p.M284T

c.851T>C

1 paper

NM_000492.4

p.M284R

c.851T>G

1 paper

NM_000492.4

p.E282K

c.844G>A

1 paper

NM_000492.4

p.M284I

c.852G>A

1 paper

NM_000492.4

p.E282Q

c.844G>C