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.R1239_V1240Splc

c.3718-2530A>G

Surrounding Variants

1 paper

NM_000492.4

p.R1239_V1240Splc

c.3718-2531A>G

175 papers

NM_000492.4

p.R1239_V1240Splc

c.3718-2477C>T

1 paper

NM_000492.4

p.R1239_V1240Splc

c.3718-2476G>A

1 paper

NM_000492.4

p.R1239_V1240Splc

c.3718-4469A>G

13 papers

NM_000492.4

p.R1239_V1240Splc

c.3718-24G>A

10 papers

NM_000492.4

p.R1239_V1240Splc

c.3718-3T>G

12 papers

NM_000492.4

p.R1239_V1240Splc

c.3718-1G>A

3 papers

NM_000492.4

p.V1240M

c.3718G>A

3 papers

NM_000492.4

p.V1240L

c.3718G>C

3 papers

NM_000492.4

p.V1240L

c.3718G>T

1 paper

NM_000492.4

p.V1240A

c.3719T>C

20 papers

NM_000492.4

p.V1240G

c.3719T>G