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

6 papers

NM_000492.4

p.E528_D529Splc

c.1585-3T>G

Surrounding Variants

3 papers

NM_000492.4

p.E528_D529Splc

c.1585-3T>C

9 papers

NM_000492.4

p.E528_D529Splc

c.1585-2A>G

2 papers

NM_000492.4

p.E528_D529Splc

c.1585-2A>T

126 papers

NM_000492.4

p.E528_D529Splc

c.1585-1G>A

2 papers

NM_000492.4

p.E528_D529Splc

c.1585-1G>C

2 papers

NM_000492.4

p.E528_D529Splc

c.1585-1G>T

5 papers

NM_000492.4

p.D529N

c.1585G>A

2 papers

NM_000492.4

p.D529H

c.1585G>C

4 papers

NM_000492.4

p.D529A

c.1586A>C

4 papers

NM_000492.4

p.D529G

c.1586A>G

1 paper

NM_000492.4

p.E528_D529Splc

c.1585-7G>A

19 papers

NM_000492.4

p.E528_D529Splc

c.1585-8G>A