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.Q1309K

c.3925C>A

Surrounding Variants

1 paper

NM_000492.4

p.Q1309E

c.3925C>G

4 papers

NM_000492.4

p.Q1309*

c.3925C>T

3 papers

NM_000492.4

p.Q1309_D1312del0

c.3925_3936del12

1 paper

NM_000492.4

p.E1308A

c.3923A>C

5 papers

NM_000492.4

p.Q1309H

c.3927G>C

5 papers

NM_000492.4

p.Q1309H

c.3927G>T

10 papers

NM_000492.4

p.E1308*

c.3922G>T

1 paper

NM_000492.4

p.W1310R

c.3928T>A

1 paper

NM_000492.4

p.W1310R

c.3928T>C

1 paper

NM_000492.4

p.W1310G

c.3928T>G

32 papers

NM_000492.4

p.W1310*

c.3929G>A

10 papers

NM_000492.4

p.Y1307*

c.3921T>A