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

330 papers

NM_000492.4

p.R1066C

c.3196C>T

Surrounding Variants

14 papers

NM_000492.4

p.R1066S

c.3196C>A

4 papers

NM_000492.4

p.R1066G

c.3196C>G

157 papers

NM_000492.4

p.R1066H

c.3197G>A

2 papers

NM_000492.4

p.R1066P

c.3197G>C

28 papers

NM_000492.4

p.R1066L

c.3197G>T

1 paper

NM_000492.4

p.L1065L

c.3195T>A

1 paper

NM_000492.4

p.L1065H

c.3194T>A

105 papers

NM_000492.4

p.L1065P

c.3194T>C

12 papers

NM_000492.4

p.L1065R

c.3194T>G

4 papers

NM_000492.4

p.A1067delFs

c.3199delG

3 papers

NM_000492.4

p.A1067_F1068del0

c.3199_3204del6

8 papers

NM_000492.4

p.L1065F

c.3193C>T