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.A120S

c.358G>T

Surrounding Variants

83 papers

NM_000492.4

p.A120T

c.358G>A

3 papers

NM_000492.4

p.A120P

c.358G>C

1 paper

NM_000492.4

p.I119I

c.357C>A

13 papers

NM_000492.4

p.A120insFs

c.359_360insT

3 papers

NM_000492.4

p.I119M

c.357C>G

9 papers

NM_000492.4

p.A120V

c.359C>T

1 paper

NM_000492.4

p.I119I

c.357C>T

1 paper

NM_000492.4

p.A120delFs

c.360delG

2 papers

NM_000492.4

p.A120A

c.360G>A

1 paper

NM_000492.4

p.A120_I121insFs

c.360_361insT

1 paper

NM_000492.4

p.A120A

c.360G>T

3 papers

NM_000492.4

p.I119N

c.356T>A