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

4 papers

NM_000492.4

p.R104G

c.310A>G

Surrounding Variants

1 paper

NM_000492.4

p.R104fs

c.310_311fs

2 papers

NM_000492.4

p.R104*

c.310A>T

2 papers

NM_000492.4

p.R104fs

c.310_311fs

1 paper

NM_000492.4

p.G103G

c.309A>C

18 papers

NM_000492.4

p.G103G

c.309A>G

5 papers

NM_000492.4

p.G103G

c.309A>T

2 papers

NM_000492.4

p.R104T

c.311G>C

23 papers

NM_000492.4

p.I105delFs

c.313delA

1 paper

NM_000492.4

p.I105_Y109delFs

c.313_326del14

16 papers

NM_000492.4

p.G103E

c.308G>A

2 papers

NM_000492.4

p.G103insFs

c.308_309insA

7 papers

NM_000492.4

p.R104delFs

c.310delA