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

31 papers

NM_000492.4

p.Y109C

c.326A>G

Surrounding Variants

3 papers

NM_000492.4

p.Y109S

c.326A>C

1 paper

NM_000492.4

p.Y109F

c.326A>T

15 papers

NM_000492.4

p.Y109N

c.325T>A

7 papers

NM_000492.4

p.Y109*

c.327T>A

4 papers

NM_000492.4

p.Y109H

c.325T>C

8 papers

NM_000492.4

p.Y109D

c.325T>G

7 papers

NM_000492.4

p.Y109*

c.327T>G

1 paper

NM_000492.4

p.Y109fs

c.325_326fs

19 papers

NM_000492.4

p.Y109Fs

c.325_327delinsGFs

7 papers

NM_000492.4

p.Y109fs

c.325_326fs

2 papers

NM_000492.4

p.Y109delFs

c.326_327delAT

5 papers

NM_000492.4

p.D110N

c.328G>A