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.V318A

c.953T>C

Surrounding Variants

1 paper

NM_000492.4

p.V318E

c.953T>A

2 papers

NM_000492.4

p.V318V

c.954G>A

1 paper

NM_000492.4

p.L320delFs

c.959delT

1 paper

NM_000492.4

p.V317V

c.951G>A

1 paper

NM_000492.4

p.F319V

c.955T>G

1 paper

NM_000492.4

p.F319fs

c.955_956fs

5 papers

NM_000492.4

p.V317E

c.950T>A

13 papers

NM_000492.4

p.V317A

c.950T>C

2 papers

NM_000492.4

p.V317G

c.950T>G

2 papers

NM_000492.4

p.F319C

c.956T>G

3 papers

NM_000492.4

p.V317M

c.949G>A

1 paper

NM_000492.4

p.V317insFs

c.949_950ins5