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.V260E

c.779T>A

Surrounding Variants

1 paper

NM_000492.4

p.V260A

c.779T>C

3 papers

NM_000492.4

p.V260G

c.779T>G

2 papers

NM_000492.4

p.V260M

c.778G>A

2 papers

NM_000492.4

p.V260V

c.780G>A

1 paper

NM_000492.4

p.V260V

c.780G>T

1 paper

NM_000492.4

p.I261N

c.782T>A

2 papers

NM_000492.4

p.I261T

c.782T>C

1 paper

NM_000492.4

p.L259V

c.775C>G

2 papers

NM_000492.4

p.L259Fs

c.775delinsGCTGGGAAGATFs

3 papers

NM_000492.4

p.L259F

c.775C>T

2 papers

NM_000492.4

p.L259Fs

c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCAFs

2 papers

NM_000492.4

p.L259delFs

c.777delT