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

2 papers

NM_000492.4

p.T1246P

c.3736A>C

Surrounding Variants

2 papers

NM_000492.4

p.T1246A

c.3736A>G

2 papers

NM_000492.4

p.T1246S

c.3736A>T

1 paper

NM_000492.4

p.R1245R

c.3735A>G

9 papers

NM_000492.4

p.T1246N

c.3737C>A

2 papers

NM_000492.4

p.T1246S

c.3737C>G

23 papers

NM_000492.4

p.T1246I

c.3737C>T

1 paper

NM_000492.4

p.R1245K

c.3734G>A

1 paper

NM_000492.4

p.R1245insFs

c.3733_3734insG

6 papers

NM_000492.4

p.G1247R

c.3739G>A

6 papers

NM_000492.4

p.G1247R

c.3739G>C

1 paper

NM_000492.4

p.G1247_S1248ins5

c.3739_3743ins15

1 paper

NM_000492.4

p.G1247_S1248ins7

c.3739_3743ins21