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

1 paper

NM_000492.4

p.V181D

c.542T>A

Surrounding Variants

1 paper

NM_000492.4

p.V181A

c.542T>C

1 paper

NM_000492.4

p.V181ins1

c.542_543insCTA

2 papers

NM_000492.4

p.V181_N186delFs

c.543_556del14

1 paper

NM_000492.4

p.V181insFs

c.541_542ins4

1 paper

NM_000492.4

p.V181fs

c.541_542fs

3 papers

NM_000492.4

p.S182R

c.544A>C

3 papers

NM_000492.4

p.S182G

c.544A>G

2 papers

NM_000492.4

p.S182C

c.544A>T

1 paper

NM_000492.4

p.L180L

c.540T>G

4 papers

NM_000492.4

p.V181_S182delFs

c.543_546del4

1 paper

NM_000492.4

p.S182N

c.545G>A

2 papers

NM_000492.4

p.L180P

c.539T>C