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

1 paper

NM_000492.4

p.R55Splc

c.165-4G>A

Surrounding Variants

10 papers

NM_000492.4

p.R55Splc

c.165-3C>T

1 paper

NM_000492.4

p.R55Splc

c.165-5T>C

1 paper

NM_000492.4

p.R55Splc

c.165-2A>C

6 papers

NM_000492.4

p.R55Splc

c.165-2A>G

9 papers

NM_000492.4

p.R55Splc

c.165-1G>A

1 paper

NM_000492.4

p.R55_E56del1

c.165_167delAGA

2 papers

NM_000492.4

p.R55S

c.165A>T

1 paper

NM_000492.4

p.R55Splc

c.165-9C>A

69 papers

NM_000492.4

p.E56K

c.166G>A

1 paper

NM_000492.4

p.E56Q

c.166G>C

3 papers

NM_000492.4

p.E56*

c.166G>T

4 papers

NM_000492.4

p.E56delFs

c.168delA