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

41 papers

NM_000492.4

p.S341P

c.1021T>C

Surrounding Variants

2 papers

NM_000492.4

p.S341T

c.1021T>A

27 papers

NM_000492.4

p.S341A

c.1021T>G

1 paper

NM_000492.4

p.I340M

c.1020C>G

1 paper

NM_000492.4

p.S341L

c.1022C>T

1 paper

NM_000492.4

p.S341_F342insFs

c.1023_1024insTC

1 paper

NM_000492.4

p.S341S

c.1023A>C

1 paper

NM_000492.4

p.S341S

c.1023A>G

1 paper

NM_000492.4

p.F342_P355del14

c.1024_1064del42

9 papers

NM_000492.4

p.I340N

c.1019T>A

1 paper

NM_000492.4

p.I340T

c.1019T>C

31 papers

NM_000492.4

p.S341insFs

c.1021_1022dupTC

2 papers

NM_000492.4

p.I340V

c.1018A>G