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.R248Splc

c.744-1G>C

Surrounding Variants

1 paper

NM_000492.4

p.R248_D249insFs

c.744_745insT

4 papers

NM_000492.4

p.R248Splc

c.744-2A>G

2 papers

NM_000492.4

p.R248Splc

c.744-3C>G

6 papers

NM_000492.4

p.D249Y

c.745G>T

2 papers

NM_000492.4

p.D249insFs

c.746_747insC

1 paper

NM_000492.4

p.D249G

c.746A>G

1 paper

NM_000492.4

p.Q250_R251ins4

c.748_752ins12

5 papers

NM_000492.4

p.Q250*

c.748C>T

6 papers

NM_000492.4

p.R251_A252delFs

c.753_754delAG

3 papers

NM_000492.4

p.R248Splc

c.744-6T>G

2 papers

NM_000492.4

p.Q250R

c.749A>G

1 paper

NM_000492.4

p.R248Splc

c.744-7T>C