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

3 papers

NM_000492.4

p.I154insFs

c.461dupT

Surrounding Variants

1 paper

NM_000492.4

p.I154L

c.460A>C

2 papers

NM_000492.4

p.I154L

c.460A>T

4 papers

NM_000492.4

p.I154T

c.461T>C

2 papers

NM_000492.4

p.I154R

c.461T>G

2 papers

NM_000492.4

p.I154I

c.462A>C

2 papers

NM_000492.4

p.I154M

c.462A>G

2 papers

NM_000492.4

p.I154I

c.462A>T

6 papers

NM_000492.4

p.R153K

c.458G>A

1 paper

NM_000492.4

p.I154insFs

c.460_461insA

2 papers

NM_000492.4

p.R153I

c.458G>T

2 papers

NM_000492.4

p.R153*

c.457A>T

1 paper

NM_000492.4

p.R153delFs

c.458delG