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

46 papers

NM_000492.4

p.L227R

c.680T>G

Surrounding Variants

1 paper

NM_000492.4

p.L227H

c.680T>A

1 paper

NM_000492.4

p.L227P

c.680T>C

1 paper

NM_000492.4

p.L227insFs

c.679_680insAG

6 papers

NM_000492.4

p.L227_G228insT

c.679_683ins3

2 papers

NM_000492.4

p.L227delFs

c.680delT

4 papers

NM_000492.4

p.G228S

c.682G>A

1 paper

NM_000492.4

p.G228insFs

c.682_683insAC

2 papers

NM_000492.4

p.G228C

c.682G>T

4 papers

NM_000492.4

p.G228D

c.683G>A

3 papers

NM_000492.4

p.G226E

c.677G>A

2 papers

NM_000492.4

p.G226A

c.677G>C

2 papers

NM_000492.4

p.G228A

c.683G>C