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

13 papers

NM_000492.4

p.I1295fs

c.3883_3884fs

Surrounding Variants

2 papers

NM_000492.4

p.I1295insFs

c.3883_3884insG

4 papers

NM_000492.4

p.I1295fs

c.3883_3884fs

37 papers

NM_000492.4

p.S1297insFs

c.3889dupT

1 paper

NM_000492.4

p.I1295L

c.3883A>C

2 papers

NM_000492.4

p.S1297delFs

c.3889delT

2 papers

NM_000492.4

p.I1295insFs

c.3884_3885insG

18 papers

NM_000492.4

p.I1295delFs

c.3883delA

2 papers

NM_000492.4

p.F1294C

c.3881T>G

4 papers

NM_000492.4

p.F1296insFs

c.3886_3887insA

1 paper

NM_000492.4

p.I1295_F1296ins0

c.3883_3888dup6

1 paper

NM_000492.4

p.F1294_F1300del7

c.3880_3899del21

2 papers

NM_000492.4

p.F1296S

c.3887T>C