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

7 papers

NM_000492.4

p.G1244R

c.3730G>C

Surrounding Variants

7 papers

NM_000492.4

p.G1244R

c.3730G>A

309 papers

NM_000492.4

p.G1244E

c.3731G>A

20 papers

NM_000492.4

p.G1244V

c.3731G>T

27 papers

NM_000492.4

p.G1244delFs

c.3732delA

4 papers

NM_000492.4

p.L1243*

c.3728T>A

1 paper

NM_000492.4

p.R1245insFs

c.3733_3734insG

1 paper

NM_000492.4

p.L1242L

c.3726C>T

5 papers

NM_000492.4

p.L1243_G1247del5

c.3727_3740del15

1 paper

NM_000492.4

p.R1245K

c.3734G>A

1 paper

NM_000492.4

p.R1245R

c.3735A>G

2 papers

NM_000492.4

p.T1246P

c.3736A>C

2 papers

NM_000492.4

p.T1246A

c.3736A>G