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.W1282R

c.3844T>A

Surrounding Variants

41 papers

NM_000492.4

p.W1282R

c.3844T>C

9 papers

NM_000492.4

p.W1282G

c.3844T>G

1649 papers

NM_000492.4

p.W1282*

c.3845G>A

1 paper

NM_000492.4

p.Q1281H

c.3843G>C

1 paper

NM_000492.4

p.W1282S

c.3845G>C

5 papers

NM_000492.4

p.W1282L

c.3845G>T

1 paper

NM_000492.4

p.Q1281H

c.3843G>T

7 papers

NM_000492.4

p.Q1281R

c.3842A>G

1663 papers

NM_000492.4

p.W1282*

c.3846G>A

11 papers

NM_000492.4

p.W1282C

c.3846G>C

11 papers

NM_000492.4

p.W1282C

c.3846G>T

2 papers

NM_000492.4

p.R1283delFs

c.3847delA