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

29 papers

NM_000492.4

p.D924N

c.2770G>A

Surrounding Variants

3 papers

NM_000492.4

p.D924H

c.2770G>C

2 papers

NM_000492.4

p.D924Y

c.2770G>T

2 papers

NM_000492.4

p.D924A

c.2771A>C

3 papers

NM_000492.4

p.D924V

c.2771A>T

2 papers

NM_000492.4

p.A923A

c.2769C>T

2 papers

NM_000492.4

p.D924E

c.2772C>A

2 papers

NM_000492.4

p.D924E

c.2772C>G

2 papers

NM_000492.4

p.T925N

c.2774C>A

3 papers

NM_000492.4

p.L926delFs

c.2777delT

3 papers

NM_000492.4

p.T925_L926delFs

c.2775_2776delTT

2 papers

NM_000492.4

p.V922L

c.2764G>C

1 paper

NM_000492.4

p.V922ins1

c.2764_2765insAGA