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

112 papers

NM_000492.4

p.D579G

c.1736A>G

Surrounding Variants

2 papers

NM_000492.4

p.D579A

c.1736A>C

2 papers

NM_000492.4

p.D579N

c.1735G>A

1 paper

NM_000492.4

p.D579H

c.1735G>C

9 papers

NM_000492.4

p.D579Y

c.1735G>T

1 paper

NM_000492.4

p.D579D

c.1737T>C

2 papers

NM_000492.4

p.V580delFs

c.1738delG

2 papers

NM_000492.4

p.L578L

c.1734A>G

2 papers

NM_000492.4

p.V580I

c.1738G>A

5 papers

NM_000492.4

p.L581insFs

c.1742dupT

2 papers

NM_000492.4

p.L581insFs

c.1741_1742dupTT

6 papers

NM_000492.4

p.L578P

c.1733T>C

1 paper

NM_000492.4

p.L578I

c.1732C>A