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.E1194*

c.3580G>T

Surrounding Variants

1 paper

NM_000492.4

p.E1194A

c.3581A>C

1 paper

NM_000492.4

p.E1194G

c.3581A>G

1 paper

NM_000492.4

p.I1193M

c.3579T>G

1 paper

NM_000492.4

p.E1194D

c.3582G>C

1 paper

NM_000492.4

p.E1194D

c.3582G>T

2 papers

NM_000492.4

p.I1193T

c.3578T>C

3 papers

NM_000492.4

p.N1195T

c.3584A>C

2 papers

NM_000492.4

p.N1195K

c.3585T>A

2 papers

NM_000492.4

p.N1195K

c.3585T>G

2 papers

NM_000492.4

p.S1196T

c.3586T>A

1 paper

NM_000492.4

p.S1196P

c.3586T>C

81 papers

NM_000492.4

p.S1196*

c.3587C>A