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

110 papers

NM_000492.4

p.E217G

c.650A>G

Surrounding Variants

1 paper

NM_000492.4

p.E217A

c.650A>C

2 papers

NM_000492.4

p.E217V

c.650A>T

1 paper

NM_000492.4

p.E217K

c.649G>A

2 papers

NM_000492.4

p.E217D

c.651G>C

1 paper

NM_000492.4

p.L218insFs

c.653dupT

2 papers

NM_000492.4

p.E217D

c.651G>T

1 paper

NM_000492.4

p.E217*

c.649G>T

3 papers

NM_000492.4

p.E217fs

c.649_650fs

4 papers

NM_000492.4

p.E217_Q220delFs

c.650_659del10

25 papers

NM_000492.4

p.W216*

c.648G>A

6 papers

NM_000492.4

p.W216C

c.648G>C

6 papers

NM_000492.4

p.W216C

c.648G>T