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.E116D

c.348A>T

Surrounding Variants

1 paper

NM_000492.4

p.E116D

c.348A>C

2 papers

NM_000492.4

p.E116A

c.347A>C

1 paper

NM_000492.4

p.E116G

c.347A>G

1 paper

NM_000492.4

p.R117S

c.349C>A

24 papers

NM_000492.4

p.R117G

c.349C>G

259 papers

NM_000492.4

p.R117C

c.349C>T

1770 papers

NM_000492.4

p.R117H

c.350G>A

28 papers

NM_000492.4

p.E116K

c.346G>A

31 papers

NM_000492.4

p.R117P

c.350G>C

8 papers

NM_000492.4

p.E116Q

c.346G>C

56 papers

NM_000492.4

p.R117L

c.350G>T

1 paper

NM_000492.4

p.E116*

c.346G>T