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.E193_G194Splc

c.579+4T>C

Surrounding Variants

4 papers

NM_000492.4

p.E193_G194Splc

c.579+3A>C

36 papers

NM_000492.4

p.E193_G194Splc

c.579+3A>G

2 papers

NM_000492.4

p.E193_G194Splc

c.579+3A>T

23 papers

NM_000492.4

p.E193_G194Splc

c.579+5G>A

1 paper

NM_000492.4

p.E193_G194Splc

c.579+5G>T

1 paper

NM_000492.4

p.E193_G194Splc

c.579+2T>A

2 papers

NM_000492.4

p.E193_G194Splc

c.579+2T>C

2 papers

NM_000492.4

p.E193_G194Splc

c.579+7A>G

8 papers

NM_000492.4

p.E193_G194Splc

c.579+1G>A

83 papers

NM_000492.4

p.E193_G194Splc

c.579+1G>T

1 paper

NM_000492.4

p.E193_G194Splc

c.579+8C>A

1 paper

NM_000492.4

p.E193G

c.578A>G