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

34 papers

NM_000492.4

p.G1249R

c.3745G>A

Surrounding Variants

34 papers

NM_000492.4

p.G1249R

c.3745G>C

6 papers

NM_000492.4

p.G1249delFs

c.3747delG

27 papers

NM_000492.4

p.G1249E

c.3746G>A

5 papers

NM_000492.4

p.S1248*

c.3743C>A

6 papers

NM_000492.4

p.S1248*

c.3743C>G

30 papers

NM_000492.4

p.S1248delFs

c.3744delA

2 papers

NM_000492.4

p.K1250fs

c.3748_3749fs

1 paper

NM_000492.4

p.K1250Q

c.3748A>C

6 papers

NM_000492.4

p.K1250fs

c.3748_3749fs

1 paper

NM_000492.4

p.S1248A

c.3742T>G

1 paper

NM_000492.4

p.S1248fs

c.3742_3743fs

1 paper

NM_000492.4

p.K1250T

c.3749A>C