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

44 papers

NM_000492.4

p.R792*

c.2374C>T

Surrounding Variants

29 papers

NM_000492.4

p.R792G

c.2374C>G

1 paper

NM_000492.4

p.T791T

c.2373A>G

7 papers

NM_000492.4

p.R792Q

c.2375G>A

2 papers

NM_000492.4

p.K793delFs

c.2378_2379delAA

1 paper

NM_000492.4

p.T791delFs

c.2373delA

5 papers

NM_000492.4

p.T791A

c.2371A>G

1 paper

NM_000492.4

p.T791S

c.2371A>T

1 paper

NM_000492.4

p.K793*

c.2377A>T

2 papers

NM_000492.4

p.K793N

c.2379A>C

2 papers

NM_000492.4

p.K793N

c.2379A>T

2 papers

NM_000492.4

p.V794delFs

c.2380delG

3 papers

NM_000492.4

p.V794_L796delFs

c.2380_2387del8