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.L184del1

c.550_551delCTT

Surrounding Variants

1 paper

NM_000492.4

p.L183L

c.549C>T

1 paper

NM_000492.4

p.S185delFs

c.553delT

1 paper

NM_000492.4

p.L184fs

c.550_551fs

4 papers

NM_000492.4

p.L183H

c.548T>A

1 paper

NM_000492.4

p.L183P

c.548T>C

4 papers

NM_000492.4

p.L184delFs

c.550delC

21 papers

NM_000492.4

p.L183I

c.547C>A

1 paper

NM_000492.4

p.L183insFs

c.547_548insGA

1 paper

NM_000492.4

p.L183fs

c.547_548fs

4 papers

NM_000492.4

p.L183insFs

c.547_548insTA

4 papers

NM_000492.4

p.L183delFs

c.548delT

2 papers

NM_000492.4

p.L183fs

c.547_548fs