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

7 papers

NM_000492.4

p.E92A

c.275A>C

Surrounding Variants

1 paper

NM_000492.4

p.E92V

c.275A>T

5 papers

NM_000492.4

p.E92D

c.276A>C

5 papers

NM_000492.4

p.E92D

c.276A>T

167 papers

NM_000492.4

p.E92K

c.274G>A

5 papers

NM_000492.4

p.E92Q

c.274G>C

1 paper

NM_000492.4

p.E92fs

c.274_275fs

72 papers

NM_000492.4

p.E92*

c.274G>T

28 papers

NM_000492.4

p.G91_E92Splc

c.274-1G>A

1 paper

NM_000492.4

p.V93I

c.277G>A

4 papers

NM_000492.4

p.G91_E92Splc

c.274-1G>C

1 paper

NM_000492.4

p.V93insFs

c.278_279insT

2 papers

NM_000492.4

p.G91_E92Splc

c.274-1G>T