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.E514G

c.1541A>G

Surrounding Variants

2 papers

NM_000492.4

p.E514A

c.1541A>C

59 papers

NM_000492.4

p.Y515_R516delFs

c.1545_1546delTA

3 papers

NM_000492.4

p.E514D

c.1542A>C

3 papers

NM_000492.4

p.E514D

c.1542A>T

8 papers

NM_000492.4

p.E514K

c.1540G>A

3 papers

NM_000492.4

p.E514*

c.1540G>T

2 papers

NM_000492.4

p.Y515N

c.1543T>A

1 paper

NM_000492.4

p.D513E

c.1539T>A

6 papers

NM_000492.4

p.Y515H

c.1543T>C

2 papers

NM_000492.4

p.Y515D

c.1543T>G

1 paper

NM_000492.4

p.D513E

c.1539T>G

2 papers

NM_000492.4

p.Y515fs

c.1543_1544fs