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

5 papers

NM_000492.4

p.D729insFs

c.2185_2186insA

Surrounding Variants

2 papers

NM_000492.4

p.D729H

c.2185G>C

9 papers

NM_000492.4

p.D729insFs

c.2185_2186insC

2 papers

NM_000492.4

p.D729A

c.2186A>C

215 papers

NM_000492.4

p.S728_D729insFs

c.2184_2185insA

1 paper

NM_000492.4

p.S728_D729insFs

c.2184_2185insAA

2 papers

NM_000492.4

p.S728_D729insFs

c.2184_2185insG

1 paper

NM_000492.4

p.S728Y

c.2183C>A

2 papers

NM_000492.4

p.S728F

c.2183C>T

2 papers

NM_000492.4

p.E730K

c.2188G>A

1 paper

NM_000492.4

p.E730Q

c.2188G>C

17 papers

NM_000492.4

p.E730*

c.2188G>T

1 paper

NM_000492.4

p.E730delFs

c.2189delA