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.S1049I

c.3146G>T

Surrounding Variants

2 papers

NM_000492.4

p.S1049N

c.3146G>A

1 paper

NM_000492.4

p.S1049C

c.3145A>T

2 papers

NM_000492.4

p.P1050Q

c.3149C>A

1 paper

NM_000492.4

p.R1048Fs

c.3143delinsTAACTFs

4 papers

NM_000492.4

p.R1048G

c.3142A>G

1 paper

NM_000492.4

p.R1048W

c.3142A>T

1 paper

NM_000492.4

p.R1048fs

c.3142_3143fs

1 paper

NM_000492.4

p.I1051_F1052insFs

c.3153_3154insT

5 papers

NM_000492.4

p.I1051V

c.3151A>G

2 papers

NM_000492.4

p.I1051F

c.3151A>T

4 papers

NM_000492.4

p.I1051delFs

c.3152delT

2 papers

NM_000492.4

p.G1047D

c.3140G>A