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

49 papers

NM_000492.4

p.R258G

c.772A>G

Surrounding Variants

2 papers

NM_000492.4

p.R258delFs

c.773delG

3 papers

NM_000492.4

p.R258K

c.773G>A

5 papers

NM_000492.4

p.R258I

c.773G>T

1 paper

NM_000492.4

p.R258_L259insFs

c.774_775insT

1 paper

NM_000492.4

p.R258S

c.774A>C

3 papers

NM_000492.4

p.E257G

c.770A>G

1 paper

NM_000492.4

p.R258R

c.774A>G

1 paper

NM_000492.4

p.R258S

c.774A>T

1 paper

NM_000492.4

p.L259V

c.775C>G

2 papers

NM_000492.4

p.L259Fs

c.775delinsGCTGGGAAGATFs

3 papers

NM_000492.4

p.L259F

c.775C>T

2 papers

NM_000492.4

p.L259Fs

c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCAFs