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.V393G

c.1178T>G

Surrounding Variants

4 papers

NM_000492.4

p.V393E

c.1178T>A

2 papers

NM_000492.4

p.V393M

c.1177G>A

6 papers

NM_000492.4

p.V393L

c.1177G>C

6 papers

NM_000492.4

p.V393L

c.1177G>T

2 papers

NM_000492.4

p.M394_T398del5

c.1180_1193del15

2 papers

NM_000492.4

p.M394L

c.1180A>C

1 paper

NM_000492.4

p.V392V

c.1176A>G

2 papers

NM_000492.4

p.M394L

c.1180A>T

3 papers

NM_000492.4

p.V393delFs

c.1177delG

2 papers

NM_000492.4

p.V392E

c.1175T>A

8 papers

NM_000492.4

p.V392A

c.1175T>C

1 paper

NM_000492.4

p.M394T

c.1181T>C