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.S573A

c.1717T>G

Surrounding Variants

4 papers

NM_000492.4

p.D572E

c.1716C>A

7 papers

NM_000492.4

p.S573C

c.1718C>G

4 papers

NM_000492.4

p.D572E

c.1716C>G

6 papers

NM_000492.4

p.S573F

c.1718C>T

2 papers

NM_000492.4

p.D572D

c.1716C>T

1 paper

NM_000492.4

p.D572A

c.1715A>C

2 papers

NM_000492.4

p.D572G

c.1715A>G

1 paper

NM_000492.4

p.D572_S573delFs

c.1716_1719del4

1 paper

NM_000492.4

p.S573S

c.1719T>A

2 papers

NM_000492.4

p.S573S

c.1719T>C

2 papers

NM_000492.4

p.S573S

c.1719T>G

1 paper

NM_000492.4

p.P574_G576del3

c.1720_1727del9