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

3 papers

NM_000492.4

p.V1020E

c.3059T>A

Surrounding Variants

1 paper

NM_000492.4

p.V1020A

c.3059T>C

1 paper

NM_000492.4

p.V1020V

c.3060G>A

8 papers

NM_000492.4

p.P1021T

c.3061C>A

2 papers

NM_000492.4

p.P1021insFs

c.3061_3062insA

2 papers

NM_000492.4

p.P1021A

c.3061C>G

10 papers

NM_000492.4

p.P1021S

c.3061C>T

12 papers

NM_000492.4

p.P1021L

c.3062C>T

39 papers

NM_000492.4

p.I1023_V1024del0

c.3067_3072del6

1 paper

NM_000492.4

p.P1021_I1023delFs

c.3063_3069del7

1 paper

NM_000492.4

p.T1019A

c.3055A>G

3 papers

NM_000492.4

p.V1022M

c.3064G>A

13 papers

NM_000492.4

p.V1022_I1023insTC

c.3064_3068ins6