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.P1072_Y1073del2

c.3214_3218del6

Surrounding Variants

1 paper

NM_000492.4

p.Q1071Q

c.3213G>A

3 papers

NM_000492.4

p.Q1071H

c.3213G>C

4 papers

NM_000492.4

p.Q1071H

c.3213G>T

1 paper

NM_000492.4

p.Q1071insFs

c.3212_3213insGT

12 papers

NM_000492.4

p.Q1071P

c.3212A>C

1 paper

NM_000492.4

p.Q1071delFs

c.3213delG

2 papers

NM_000492.4

p.P1072insFs

c.3214_3215insT

3 papers

NM_000492.4

p.P1072H

c.3215C>A

1 paper

NM_000492.4

p.Q1071insFs

c.3211_3212insGT

3 papers

NM_000492.4

p.Y1073insFs

c.3217dupT

2 papers

NM_000492.4

p.P1072R

c.3215C>G

3 papers

NM_000492.4

p.P1072L

c.3215C>T