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.S589C

c.1765A>T

Surrounding Variants

2 papers

NM_000492.4

p.S589R

c.1765A>C

27 papers

NM_000492.4

p.S589N

c.1766G>A

7 papers

NM_000492.4

p.S589T

c.1766G>C

8 papers

NM_000492.4

p.S589I

c.1766G>T

4 papers

NM_000492.4

p.E588G

c.1763A>G

17 papers

NM_000492.4

p.E588V

c.1763A>T

2 papers

NM_000492.4

p.S589R

c.1767C>A

2 papers

NM_000492.4

p.S589R

c.1767C>G

66 papers

NM_000492.4

p.S589Splc

c.1766+1G>A

13 papers

NM_000492.4

p.S589Splc

c.1766+1G>C

15 papers

NM_000492.4

p.S589Splc

c.1766+1G>T

8 papers

NM_000492.4

p.E588K

c.1762G>A