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.A367A

c.1101A>T

Surrounding Variants

1 paper

NM_000492.4

p.A367T

c.1099G>A

1 paper

NM_000492.4

p.A367fs

c.1099_1100fs

1 paper

NM_000492.4

p.G366G

c.1098A>G

1 paper

NM_000492.4

p.N369D

c.1105A>G

1 paper

NM_000492.4

p.N369Y

c.1105A>T

1 paper

NM_000492.4

p.G366A

c.1097G>C

1 paper

NM_000492.4

p.G366V

c.1097G>T

1 paper

NM_000492.4

p.N369T

c.1106A>C

2 papers

NM_000492.4

p.G366R

c.1096G>A

1 paper

NM_000492.4

p.G366_A367insC

c.1096_1100ins3

1 paper

NM_000492.4

p.G366*

c.1096G>T

1 paper

NM_000492.4

p.N369K

c.1107C>A