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

115 papers

NM_000492.4

p.S489*

c.1466C>A

Surrounding Variants

115 papers

NM_000492.4

p.S489*

c.1466C>G

1 paper

NM_000492.4

p.S489L

c.1466C>T

4 papers

NM_000492.4

p.F490delFs

c.1469delT

3 papers

NM_000492.4

p.S489P

c.1465T>C

1 paper

NM_000492.4

p.F490L

c.1468T>C

3 papers

NM_000492.4

p.I488M

c.1464T>G

2 papers

NM_000492.4

p.S489insFs

c.1465_1466ins4

2 papers

NM_000492.4

p.F490_C491delFs

c.1470_1471delCT

1 paper

NM_000492.4

p.F490C

c.1469T>G

1 paper

NM_000492.4

p.S489insFs

c.1465_1466insT

1 paper

NM_000492.4

p.I488V

c.1462A>G

1 paper

NM_000492.4

p.F490L

c.1470C>A