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

84 papers

NM_000492.4

p.Q1412*

c.4234C>T

Surrounding Variants

2 papers

NM_000492.4

p.Q1412K

c.4234C>A

3 papers

NM_000492.4

p.Q1411P

c.4232A>C

1 paper

NM_000492.4

p.L1414delFs

c.4241delT

31 papers

NM_000492.4

p.Q1411*

c.4231C>T

1 paper

NM_000492.4

p.Q1411delFs

c.4233delA

1 paper

NM_000492.4

p.F1413I

c.4237T>A

3 papers

NM_000492.4

p.F1413L

c.4237T>C

1 paper

NM_000492.4

p.F1413V

c.4237T>G

7 papers

NM_000492.4

p.C1410*

c.4230C>A

2 papers

NM_000492.4

p.C1410W

c.4230C>G

1 paper

NM_000492.4

p.C1410C

c.4230C>T

5 papers

NM_000492.4

p.C1410S

c.4229G>C