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.F143insFs

c.429dupT

Surrounding Variants

1 paper

NM_000492.4

p.I142fs

c.424_425fs

3 papers

NM_000492.4

p.I142V

c.424A>G

1 paper

NM_000492.4

p.I142F

c.424A>T

5 papers

NM_000492.4

p.I142delFs

c.425delT

1 paper

NM_000492.4

p.A141A

c.423C>A

5 papers

NM_000492.4

p.I142delFs

c.424delA

2 papers

NM_000492.4

p.I142_L145del4

c.424_434del12

2 papers

NM_000492.4

p.I142S

c.425T>G

16 papers

NM_000492.4

p.A141D

c.422C>A

2 papers

NM_000492.4

p.A141G

c.422C>G

1 paper

NM_000492.4

p.A141S

c.421G>T

1 paper

NM_000492.4

p.A141delFs

c.422_423delCC