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.Q1209P

c.3626A>C

Surrounding Variants

2 papers

NM_000492.4

p.Q1209H

c.3627A>C

1 paper

NM_000492.4

p.Q1209Q

c.3627A>G

2 papers

NM_000492.4

p.Q1209H

c.3627A>T

1 paper

NM_000492.4

p.M1210L

c.3628A>C

1 paper

NM_000492.4

p.M1210L

c.3628A>T

4 papers

NM_000492.4

p.M1210delFs

c.3629delT

1 paper

NM_000492.4

p.G1208G

c.3624C>T

9 papers

NM_000492.4

p.G1208D

c.3623G>A

4 papers

NM_000492.4

p.M1210K

c.3629T>A

3 papers

NM_000492.4

p.M1210R

c.3629T>G

4 papers

NM_000492.4

p.M1210I

c.3630G>A

4 papers

NM_000492.4

p.M1210I

c.3630G>C