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

72 papers

NM_000492.4

p.D110E

c.330C>A

Surrounding Variants

71 papers

NM_000492.4

p.D110E

c.330C>G

3 papers

NM_000492.4

p.D110A

c.329A>C

2 papers

NM_000492.4

p.D110G

c.329A>G

2 papers

NM_000492.4

p.D110V

c.329A>T

5 papers

NM_000492.4

p.D110delFs

c.330delC

1 paper

NM_000492.4

p.P111fs

c.331_332fs

5 papers

NM_000492.4

p.P111A

c.331C>G

3 papers

NM_000492.4

p.P111S

c.331C>T

1 paper

NM_000492.4

p.P111fs

c.331_332fs

4 papers

NM_000492.4

p.P111R

c.332C>G

26 papers

NM_000492.4

p.P111L

c.332C>T

5 papers

NM_000492.4

p.D110N

c.328G>A