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.R560Splc

c.1680-570G>T

Surrounding Variants

2 papers

NM_000492.4

p.R560Splc

c.1680-588A>G

2 papers

NM_000492.4

p.R560Splc

c.1680-414C>T

1 paper

NM_000492.4

p.R560Splc

c.1680-756C>T

10 papers

NM_000492.4

p.R560Splc

c.1680-870T>A

4 papers

NM_000492.4

p.R560Splc

c.1680-871A>G

19 papers

NM_000492.4

p.R560Splc

c.1680-877G>T

8 papers

NM_000492.4

p.R560Splc

c.1680-883A>G

55 papers

NM_000492.4

p.R560Splc

c.1679+1634A>G

1 paper

NM_000492.4

p.R560Splc

c.1680-224C>A

1 paper

NM_000492.4

p.R560Splc

c.1679+1539T>C

1 paper

NM_000492.4

p.R560Splc

c.1680-113C>T

1 paper

NM_000492.4

p.R560Splc

c.1680-87T>A