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

54 papers

NM_000492.4

p.W1204*

c.3611G>A

Surrounding Variants

54 papers

NM_000492.4

p.W1204*

c.3612G>A

2 papers

NM_000492.4

p.P1205delFs

c.3615delC

1 paper

NM_000492.4

p.P1205_Q1209delFs

c.3615_3625del11

3 papers

NM_000492.4

p.P1205S

c.3613C>T

5 papers

NM_000492.4

p.I1203insFs

c.3608_3609insG

14 papers

NM_000492.4

p.I1203V

c.3607A>G

12 papers

NM_000492.4

p.S1206*

c.3617C>A

12 papers

NM_000492.4

p.S1206*

c.3617C>G

5 papers

NM_000492.4

p.S1206delFs

c.3618delA

5 papers

NM_000492.4

p.S1206_G1207delFs

c.3618_3619delAG

2 papers

NM_000492.4

p.G1208insFs

c.3623dupG

5 papers

NM_000492.4

p.G1208delFs

c.3623delG