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.G509R

c.1525G>C

Surrounding Variants

1 paper

NM_000492.4

p.G509S

c.1525G>A

1 paper

NM_000492.4

p.G509_V510insGG

c.1525_1529ins6

2 papers

NM_000492.4

p.G509C

c.1525G>T

8 papers

NM_000492.4

p.G509D

c.1526G>A

3 papers

NM_000492.4

p.G509A

c.1526G>C

6 papers

NM_000492.4

p.G509V

c.1526G>T

5 papers

NM_000492.4

p.F508L

c.1524T>A

5 papers

NM_000492.4

p.F508L

c.1524T>G

1 paper

NM_000492.4

p.G509delFs

c.1526delG

2 papers

NM_000492.4

p.F508Y

c.1523T>A

13 papers

NM_000492.4

p.F508S

c.1523T>C

203 papers

NM_000492.4

p.F508C

c.1523T>G