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.T382A

c.1144A>G

Surrounding Variants

1 paper

NM_000492.4

p.T382fs

c.1144_1145fs

5 papers

NM_000492.4

p.T382P

c.1144A>C

4 papers

NM_000492.4

p.T382I

c.1145C>T

1 paper

NM_000492.4

p.T382delFs

c.1146delA

1 paper

NM_000492.4

p.K381K

c.1143G>A

1 paper

NM_000492.4

p.K381N

c.1143G>C

1 paper

NM_000492.4

p.K381N

c.1143G>T

3 papers

NM_000492.4

p.T382T

c.1146A>C

8 papers

NM_000492.4

p.K381*

c.1141A>T

1 paper

NM_000492.4

p.Y380*

c.1140T>A

11 papers

NM_000492.4

p.L383S

c.1148T>C

1 paper

NM_000492.4

p.Y380*

c.1140T>G