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.T1115A

c.3343A>G

Surrounding Variants

2 papers

NM_000492.4

p.T1115insFs

c.3344_3345insA

1 paper

NM_000492.4

p.T1115T

c.3345C>A

1 paper

NM_000492.4

p.V1114A

c.3341T>C

3 papers

NM_000492.4

p.V1114L

c.3340G>C

1 paper

NM_000492.4

p.V1114fs

c.3340_3341fs

3 papers

NM_000492.4

p.A1113A

c.3339T>C

1 paper

NM_000492.4

p.F1116S

c.3347T>C

2 papers

NM_000492.4

p.F1116C

c.3347T>G

1 paper

NM_000492.4

p.A1113D

c.3338C>A

2 papers

NM_000492.4

p.A1113V

c.3338C>T

7 papers

NM_000492.4

p.I1117insFs

c.3349_3350insT

1 paper

NM_000492.4

p.I1117L

c.3349A>C