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

5 papers

NM_000492.4

p.S158C

c.472A>T

Surrounding Variants

5 papers

NM_000492.4

p.S158R

c.472A>C

4 papers

NM_000492.4

p.S158G

c.472A>G

1 paper

NM_000492.4

p.S158fs

c.472_473fs

18 papers

NM_000492.4

p.S158N

c.473G>A

17 papers

NM_000492.4

p.S158T

c.473G>C

3 papers

NM_000492.4

p.S158insFs

c.473_474insT

2 papers

NM_000492.4

p.S158I

c.473G>T

10 papers

NM_000492.4

p.S158insFs

c.472dupA

3 papers

NM_000492.4

p.S158R

c.474T>A

1 paper

NM_000492.4

p.S158S

c.474T>C

6 papers

NM_000492.4

p.F157C

c.470T>G

3 papers

NM_000492.4

p.S158R

c.474T>G