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

3 papers

NM_000492.4

p.V1240L

c.3718G>T

Surrounding Variants

3 papers

NM_000492.4

p.V1240M

c.3718G>A

3 papers

NM_000492.4

p.V1240L

c.3718G>C

12 papers

NM_000492.4

p.R1239_V1240Splc

c.3718-1G>A

1 paper

NM_000492.4

p.V1240A

c.3719T>C

20 papers

NM_000492.4

p.V1240G

c.3719T>G

10 papers

NM_000492.4

p.R1239_V1240Splc

c.3718-3T>G

1 paper

NM_000492.4

p.G1241V

c.3722G>T

3 papers

NM_000492.4

p.L1242delFs

c.3724delC

4 papers

NM_000492.4

p.G1241G

c.3723C>A

1 paper

NM_000492.4

p.L1242I

c.3724C>A

1 paper

NM_000492.4

p.L1242_L1243insAAC

c.3724_3728ins9

1 paper

NM_000492.4

p.L1242_L1243ins7

c.3724_3728ins21