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.Y385N

c.1153T>A

Surrounding Variants

3 papers

NM_000492.4

p.Y385H

c.1153T>C

1 paper

NM_000492.4

p.Y385fs

c.1153_1154fs

72 papers

NM_000492.4

p.Y385insFs

c.1154_1155insTC

2 papers

NM_000492.4

p.Y385C

c.1154A>G

14 papers

NM_000492.4

p.Y385insFs

c.1153_1154dupTA

4 papers

NM_000492.4

p.E384G

c.1151A>G

1 paper

NM_000492.4

p.E384V

c.1151A>T

2 papers

NM_000492.4

p.N386insFs

c.1157dupA

1 paper

NM_000492.4

p.Y385_N386insFs

c.1155_1156insTC

3 papers

NM_000492.4

p.N386insFs

c.1157_1158insTA

1 paper

NM_000492.4

p.N386fs

c.1156_1157fs

1 paper

NM_000492.4

p.N386Y

c.1156A>T