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

1 paper

NM_000492.4

p.D567D

c.1701T>C

Surrounding Variants

12 papers

NM_000492.4

p.D567A

c.1700A>C

6 papers

NM_000492.4

p.L568delFs

c.1703delT

2 papers

NM_000492.4

p.L568fs

c.1702_1703fs

2 papers

NM_000492.4

p.D567N

c.1699G>A

7 papers

NM_000492.4

p.D567Y

c.1699G>T

13 papers

NM_000492.4

p.L568*

c.1703T>A

2 papers

NM_000492.4

p.L568L

c.1704G>A

17 papers

NM_000492.4

p.L568F

c.1704G>C

17 papers

NM_000492.4

p.L568F

c.1704G>T

2 papers

NM_000492.4

p.A566A

c.1698T>A

1 paper

NM_000492.4

p.A566A

c.1698T>C

1 paper

NM_000492.4

p.A566A

c.1698T>G