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

4 papers

NM_000492.4

p.Y1182H

c.3544T>C

Surrounding Variants

1 paper

NM_000492.4

p.P1181P

c.3543A>G

7 papers

NM_000492.4

p.Y1182*

c.3546C>A

1 paper

NM_000492.4

p.P1181Q

c.3542C>A

7 papers

NM_000492.4

p.Y1182*

c.3546C>G

1 paper

NM_000492.4

p.P1181R

c.3542C>G

1 paper

NM_000492.4

p.Y1182Y

c.3546C>T

1 paper

NM_000492.4

p.K1183delFs

c.3547delA

3 papers

NM_000492.4

p.K1183E

c.3547A>G

1 paper

NM_000492.4

p.K1183R

c.3548A>G

1 paper

NM_000492.4

p.K1180T

c.3539A>C

1 paper

NM_000492.4

p.K1180R

c.3539A>G

2 papers

NM_000492.4

p.K1183N

c.3549G>C