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.G1323_L1324insA*

c.3967_3971ins6

Surrounding Variants

2 papers

NM_000492.4

p.G1323_L1324insA

c.3967_3971ins3

1 paper

NM_000492.4

p.V1322V

c.3966T>C

1 paper

NM_000492.4

p.V1322_G1323insFs

c.3966_3969dup4

1 paper

NM_000492.4

p.L1324F

c.3970C>T

1 paper

NM_000492.4

p.V1322I

c.3964G>A

1 paper

NM_000492.4

p.V1322L

c.3964G>C

3 papers

NM_000492.4

p.V1322F

c.3964G>T

2 papers

NM_000492.4

p.E1321_V1322Splc

c.3964-1G>A

21 papers

NM_000492.4

p.L1324P

c.3971T>C

1 paper

NM_000492.4

p.L1324delFs

c.3972delC

2 papers

NM_000492.4

p.V1322_G1323insFs

c.3965_3969dup5

3 papers

NM_000492.4

p.L1324L

c.3972C>T