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.Q1463H

c.4389G>C

Surrounding Variants

39 papers

NM_000492.4

p.Q1463Q

c.4389G>A

2 papers

NM_000492.4

p.Q1463H

c.4389G>T

2 papers

NM_000492.4

p.Q1463*

c.4387C>T

1 paper

NM_000492.4

p.I1464T

c.4391T>C

2 papers

NM_000492.4

p.A1465_A1466ins4

c.4393_4397ins12

3 papers

NM_000492.4

p.A1466S

c.4396G>T

1 paper

NM_000492.4

p.K1461E

c.4381A>G

1 paper

NM_000492.4

p.K1461*

c.4381A>T

72 papers

NM_000492.4

p.K1461delFs

c.4382delA

2 papers

NM_000492.4

p.K1468*

c.4402A>T

1 paper

NM_000492.4

p.K1459insFs

c.4375_4376ins4

1 paper

NM_000492.4

p.K1468R

c.4403A>G