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

6 papers

NM_000492.4

p.I853I

c.2559T>C

Surrounding Variants

2 papers

NM_000492.4

p.T854A

c.2560A>G

1 paper

NM_000492.4

p.T854S

c.2560A>T

4 papers

NM_000492.4

p.I853V

c.2557A>G

7 papers

NM_000492.4

p.I853F

c.2557A>T

1 paper

NM_000492.4

p.T854N

c.2561C>A

3 papers

NM_000492.4

p.T854I

c.2561C>T

2 papers

NM_000492.4

p.T854delFs

c.2562delT

6 papers

NM_000492.4

p.T854T

c.2562T>A

1 paper

NM_000492.4

p.Y852*

c.2556T>A

8 papers

NM_000492.4

p.T854T

c.2562T>C

71 papers

NM_000492.4

p.T854T

c.2562T>G

2 papers

NM_000492.4

p.Y852*

c.2556T>G