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.E474*

c.1420G>T

Surrounding Variants

18 papers

NM_000492.4

p.E474K

c.1420G>A

3 papers

NM_000492.4

p.E474Q

c.1420G>C

2 papers

NM_000492.4

p.L475delFs

c.1423delC

2 papers

NM_000492.4

p.L475V

c.1423C>G

2 papers

NM_000492.4

p.L475delFs

c.1424delT

2 papers

NM_000492.4

p.L475fs

c.1423_1424fs

2 papers

NM_000492.4

p.G473R

c.1417G>A

2 papers

NM_000492.4

p.G473R

c.1417G>C

2 papers

NM_000492.4

p.G473fs

c.1417_1418fs

1 paper

NM_000492.4

p.G473_E474insT

c.1417_1421ins3

7 papers

NM_000492.4

p.G473fs

c.1417_1418fs

1 paper

NM_000492.4

p.L475P

c.1424T>C