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

2 papers

NM_000492.4

p.R1066P

c.3197G>C

Surrounding Variants

157 papers

NM_000492.4

p.R1066H

c.3197G>A

28 papers

NM_000492.4

p.R1066L

c.3197G>T

14 papers

NM_000492.4

p.R1066S

c.3196C>A

4 papers

NM_000492.4

p.R1066G

c.3196C>G

330 papers

NM_000492.4

p.R1066C

c.3196C>T

4 papers

NM_000492.4

p.A1067delFs

c.3199delG

3 papers

NM_000492.4

p.A1067_F1068del0

c.3199_3204del6

76 papers

NM_000492.4

p.A1067T

c.3199G>A

7 papers

NM_000492.4

p.A1067P

c.3199G>C

1 paper

NM_000492.4

p.L1065L

c.3195T>A

3 papers

NM_000492.4

p.A1067D

c.3200C>A

3 papers

NM_000492.4

p.A1067G

c.3200C>G