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.L1368P

c.4103T>C

Surrounding Variants

1 paper

NM_000492.4

p.L1369F

c.4105C>T

2 papers

NM_000492.4

p.L1369_D1370Fs

c.4105_4110delinsAGAAFs

2 papers

NM_000492.4

p.D1370_P1378del9

c.4108_4133del27

35 papers

NM_000492.4

p.D1370N

c.4108G>A

2 papers

NM_000492.4

p.D1370H

c.4108G>C

3 papers

NM_000492.4

p.D1370G

c.4109A>G

16 papers

NM_000492.4

p.I1366N

c.4097T>A

9 papers

NM_000492.4

p.I1366T

c.4097T>C

1 paper

NM_000492.4

p.I1366_L1367insFs

c.4097_4101dup5

5 papers

NM_000492.4

p.I1366F

c.4096A>T

3 papers

NM_000492.4

p.D1370E

c.4110T>A

3 papers

NM_000492.4

p.D1370E

c.4110T>G