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

9 papers

NM_000492.4

p.Y84*

c.252T>G

Surrounding Variants

9 papers

NM_000492.4

p.Y84*

c.252T>A

1 paper

NM_000492.4

p.Y84Y

c.252T>C

6 papers

NM_000492.4

p.Y84C

c.251A>G

2 papers

NM_000492.4

p.Y84F

c.251A>T

1 paper

NM_000492.4

p.Y84delFs

c.252delT

7 papers

NM_000492.4

p.G85R

c.253G>A

9 papers

NM_000492.4

p.G85R

c.253G>C

3 papers

NM_000492.4

p.G85*

c.253G>T

717 papers

NM_000492.4

p.G85E

c.254G>A

4 papers

NM_000492.4

p.G85A

c.254G>C

14 papers

NM_000492.4

p.G85V

c.254G>T

9 papers

NM_000492.4

p.Y84H

c.250T>C