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

2 papers

NM_000492.4

p.R450I

c.1349G>T

Surrounding Variants

2 papers

NM_000492.4

p.R450K

c.1349G>A

2 papers

NM_000492.4

p.R450G

c.1348A>G

1 paper

NM_000492.4

p.G451_G458del8

c.1351_1373del24

2 papers

NM_000492.4

p.E449D

c.1347A>C

2 papers

NM_000492.4

p.E449D

c.1347A>T

4 papers

NM_000492.4

p.G451R

c.1351G>A

4 papers

NM_000492.4

p.G451R

c.1351G>C

2 papers

NM_000492.4

p.E449G

c.1346A>G

10 papers

NM_000492.4

p.G451V

c.1352G>T

2 papers

NM_000492.4

p.G451delFs

c.1353delA

3 papers

NM_000492.4

p.G451_Q452insFs

c.1353_1354insT

1 paper

NM_000492.4

p.G451G

c.1353A>G