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

6 papers

NM_000492.4

p.A204T

c.610G>A

Surrounding Variants

2 papers

NM_000492.4

p.A204S

c.610G>T

1 paper

NM_000492.4

p.A204fs

c.610_611fs

6 papers

NM_000492.4

p.I203M

c.609C>G

4 papers

NM_000492.4

p.I203I

c.609C>T

1 paper

NM_000492.4

p.A204V

c.611C>T

1 paper

NM_000492.4

p.A204A

c.612T>A

1 paper

NM_000492.4

p.I203T

c.608T>C

1 paper

NM_000492.4

p.A204A

c.612T>G

2 papers

NM_000492.4

p.P205insFs

c.614dupC

3 papers

NM_000492.4

p.I203F

c.607A>T

4 papers

NM_000492.4

p.P205T

c.613C>A

2 papers

NM_000492.4

p.P205A

c.613C>G