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.N187delFs

c.560delA

Surrounding Variants

28 papers

NM_000492.4

p.N186K

c.558C>A

31 papers

NM_000492.4

p.N186K

c.558C>G

2 papers

NM_000492.4

p.N187D

c.559A>G

146 papers

NM_000492.4

p.N187Y

c.559A>T

2 papers

NM_000492.4

p.N186delFs

c.558delC

3 papers

NM_000492.4

p.N187S

c.560A>G

1 paper

NM_000492.4

p.N186D

c.556A>G

10 papers

NM_000492.4

p.N187K

c.561C>A

10 papers

NM_000492.4

p.N187K

c.561C>G

2 papers

NM_000492.4

p.S185S

c.555C>T

1 paper

NM_000492.4

p.N187N

c.561C>T

29 papers

NM_000492.4

p.N186delFs

c.556delA