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

13 papers

NM_000492.4

p.Y577F

c.1730A>T

Surrounding Variants

1 paper

NM_000492.4

p.Y577C

c.1730A>G

10 papers

NM_000492.4

p.Y577*

c.1731C>A

11 papers

NM_000492.4

p.Y577*

c.1731C>G

9 papers

NM_000492.4

p.Y577Y

c.1731C>T

1 paper

NM_000492.4

p.Y577N

c.1729T>A

3 papers

NM_000492.4

p.Y577H

c.1729T>C

1 paper

NM_000492.4

p.Y577D

c.1729T>G

2 papers

NM_000492.4

p.G576G

c.1728A>G

2 papers

NM_000492.4

p.G576G

c.1728A>T

1 paper

NM_000492.4

p.L578I

c.1732C>A

1 paper

NM_000492.4

p.L578fs

c.1732_1733fs

2 papers

NM_000492.4

p.L578V

c.1732C>G