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.N416fs

c.1246_1247fs

Surrounding Variants

1 paper

NM_000492.4

p.N416H

c.1246A>C

1 paper

NM_000492.4

p.N416insFs

c.1247_1248ins5

2 papers

NM_000492.4

p.N416insFs

c.1248dupT

10 papers

NM_000492.4

p.N416S

c.1247A>G

1 paper

NM_000492.4

p.N415T

c.1244A>C

2 papers

NM_000492.4

p.N417insFs

c.1249_1250insA

3 papers

NM_000492.4

p.N416_N417insFs

c.1248_1249ins5

2 papers

NM_000492.4

p.N415_N416insTA

c.1243_1247ins6

1 paper

NM_000492.4

p.N417H

c.1249A>C

4 papers

NM_000492.4

p.N415D

c.1243A>G

1 paper

NM_000492.4

p.N417Y

c.1249A>T

1 paper

NM_000492.4

p.Q414_N415ins1

c.1242_1243insAAC