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

4 papers

NM_000492.4

p.P22L

c.65C>T

Surrounding Variants

2 papers

NM_000492.4

p.P22Q

c.65C>A

3 papers

NM_000492.4

p.P22insFs

c.65_66ins4

2 papers

NM_000492.4

p.I23_Y28delFs

c.67_83del17

1 paper

NM_000492.4

p.P22P

c.66A>G

1 paper

NM_000492.4

p.I23_S35delFs

c.67_104del38

1 paper

NM_000492.4

p.P22T

c.64C>A

1 paper

NM_000492.4

p.P22A

c.64C>G

1 paper

NM_000492.4

p.P22S

c.64C>T

2 papers

NM_000492.4

p.I23_L24insFs

c.69_70ins4

3 papers

NM_000492.4

p.I23V

c.67A>G

1 paper

NM_000492.4

p.R21T

c.62G>C

1 paper

NM_000492.4

p.R21insFs

c.63dupA