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.L526L

c.1578A>G

Surrounding Variants

1 paper

NM_000492.4

p.E527K

c.1579G>A

3 papers

NM_000492.4

p.E527Q

c.1579G>C

3 papers

NM_000492.4

p.E527insFs

c.1581dupA

2 papers

NM_000492.4

p.E527*

c.1579G>T

2 papers

NM_000492.4

p.L526P

c.1577T>C

10 papers

NM_000492.4

p.E527G

c.1580A>G

3 papers

NM_000492.4

p.L526insFs

c.1576_1577insT

1 paper

NM_000492.4

p.L526L

c.1576C>T

1 paper

NM_000492.4

p.E527D

c.1581A>C

3 papers

NM_000492.4

p.E527E

c.1581A>G

1 paper

NM_000492.4

p.E527D

c.1581A>T

1 paper

NM_000492.4

p.E528del1

c.1582_1583delGAG