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

81 papers

NM_000492.4

p.R170H

c.509G>A

Surrounding Variants

3 papers

NM_000492.4

p.R170P

c.509G>C

1 paper

NM_000492.4

p.R170insFs

c.509_510insA

2 papers

NM_000492.4

p.R170L

c.509G>T

5 papers

NM_000492.4

p.R170S

c.508C>A

1 paper

NM_000492.4

p.R170insFs

c.509_510insGG

1 paper

NM_000492.4

p.R170fs

c.508_509fs

14 papers

NM_000492.4

p.R170G

c.508C>G

22 papers

NM_000492.4

p.R170C

c.508C>T

1 paper

NM_000492.4

p.R170R

c.510T>A

4 papers

NM_000492.4

p.V171I

c.511G>A

1 paper

NM_000492.4

p.V171F

c.511G>T

2 papers

NM_000492.4

p.S169N

c.506G>A