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.K335delFs

c.1003delA

Surrounding Variants

1 paper

NM_000492.4

p.R334R

c.1002G>A

2 papers

NM_000492.4

p.K335Q

c.1003A>C

28 papers

NM_000492.4

p.K335E

c.1003A>G

69 papers

NM_000492.4

p.R334Q

c.1001G>A

42 papers

NM_000492.4

p.R334L

c.1001G>T

1 paper

NM_000492.4

p.K335T

c.1004A>C

2 papers

NM_000492.4

p.K335R

c.1004A>G

1 paper

NM_000492.4

p.K335I

c.1004A>T

843 papers

NM_000492.4

p.R334W

c.1000C>T

1 paper

NM_000492.4

p.R334delFs

c.1002delG

7 papers

NM_000492.4

p.I336insFs

c.1006_1007insG

2 papers

NM_000492.4

p.I336fs

c.1006_1007fs