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.S485R

c.1455T>A

Surrounding Variants

1 paper

NM_000492.4

p.S485R

c.1455T>G

2 papers

NM_000492.4

p.G486R

c.1456G>A

9 papers

NM_000492.4

p.S485T

c.1454G>C

1 paper

NM_000492.4

p.G486R

c.1456G>C

1 paper

NM_000492.4

p.S485insFs

c.1454_1455ins4

3 papers

NM_000492.4

p.G486*

c.1456G>T

1 paper

NM_000492.4

p.S485R

c.1453A>C

1 paper

NM_000492.4

p.S485G

c.1453A>G

16 papers

NM_000492.4

p.S485C

c.1453A>T

1 paper

NM_000492.4

p.G486A

c.1457G>C

2 papers

NM_000492.4

p.G486V

c.1457G>T

1 paper

NM_000492.4

p.G486_R487insFs

c.1458_1459insT