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

2 papers

NM_000492.4

p.R516delFs

c.1547_1548delGA

Surrounding Variants

47 papers

NM_000492.4

p.Y515*

c.1545T>A

47 papers

NM_000492.4

p.Y515*

c.1545T>G

2 papers

NM_000492.4

p.Y515insFs

c.1545dupT

8 papers

NM_000492.4

p.R516G

c.1546A>G

2 papers

NM_000492.4

p.Y515C

c.1544A>G

1 paper

NM_000492.4

p.R516fs

c.1546_1547fs

2 papers

NM_000492.4

p.R516Fs

c.1546_1548delinsTFs

21 papers

NM_000492.4

p.R516K

c.1547G>A

1 paper

NM_000492.4

p.R516T

c.1547G>C

2 papers

NM_000492.4

p.R516I

c.1547G>T

2 papers

NM_000492.4

p.Y515N

c.1543T>A

6 papers

NM_000492.4

p.Y515H

c.1543T>C