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

237 papers

NM_000492.4

p.D1270N

c.3808G>A

Surrounding Variants

2 papers

NM_000492.4

p.D1270H

c.3808G>C

1 paper

NM_000492.4

p.D1270fs

c.3808_3809fs

6 papers

NM_000492.4

p.D1270Y

c.3808G>T

2 papers

NM_000492.4

p.D1270fs

c.3808_3809fs

2 papers

NM_000492.4

p.D1270G

c.3809A>G

1 paper

NM_000492.4

p.D1270V

c.3809A>T

3 papers

NM_000492.4

p.I1269M

c.3807C>G

3 papers

NM_000492.4

p.I1269I

c.3807C>T

7 papers

NM_000492.4

p.D1270delFs

c.3808delG

16 papers

NM_000492.4

p.I1269N

c.3806T>A

6 papers

NM_000492.4

p.D1270E

c.3810T>A

6 papers

NM_000492.4

p.D1270E

c.3810T>G