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

10 papers

NM_000492.4

p.Q290Splc

c.870-2A>G

Surrounding Variants

2 papers

NM_000492.4

p.Q290Splc

c.870-2A>C

12 papers

NM_000492.4

p.Q290Splc

c.870-1G>C

1 paper

NM_000492.4

p.Q290Splc

c.870-3T>G

1 paper

NM_000492.4

p.Q290_T291insFs

c.870_871insGT

2 papers

NM_000492.4

p.Q290Splc

c.870-4A>G

1 paper

NM_000492.4

p.T291P

c.871A>C

1 paper

NM_000492.4

p.T291fs

c.871_872fs

2 papers

NM_000492.4

p.T291R

c.872C>G

2 papers

NM_000492.4

p.T291I

c.872C>T

3 papers

NM_000492.4

p.E292delFs

c.874_875delGA

13 papers

NM_000492.4

p.E292K

c.874G>A

1 paper

NM_000492.4

p.E292Q

c.874G>C