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

224 papers

NM_000492.4

p.E60*

c.178G>T

Surrounding Variants

24 papers

NM_000492.4

p.E60K

c.178G>A

8 papers

NM_000492.4

p.E60Q

c.178G>C

1 paper

NM_000492.4

p.E60A

c.179A>C

2 papers

NM_000492.4

p.E60G

c.179A>G

2 papers

NM_000492.4

p.R59S

c.177A>T

1 paper

NM_000492.4

p.E60V

c.179A>T

1 paper

NM_000492.4

p.E60_L61delFs

c.180_181delGC

1 paper

NM_000492.4

p.R59K

c.176G>A

4 papers

NM_000492.4

p.E60D

c.180G>C

2 papers

NM_000492.4

p.R59insFs

c.177dupA

2 papers

NM_000492.4

p.L61insFs

c.181_182dupCT

4 papers

NM_000492.4

p.E60D

c.180G>T