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.A46delFs

c.138delT

Surrounding Variants

40 papers

NM_000492.4

p.A46D

c.137C>A

1 paper

NM_000492.4

p.A46G

c.137C>G

7 papers

NM_000492.4

p.A46V

c.137C>T

2 papers

NM_000492.4

p.A46T

c.136G>A

1 paper

NM_000492.4

p.D47Y

c.139G>T

2 papers

NM_000492.4

p.S45S

c.135T>A

4 papers

NM_000492.4

p.S45S

c.135T>C

6 papers

NM_000492.4

p.D47A

c.140A>C

1 paper

NM_000492.4

p.D47V

c.140A>T

3 papers

NM_000492.4

p.N48_L49delFs

c.142_145del4

2 papers

NM_000492.4

p.S45Y

c.134C>A

4 papers

NM_000492.4

p.S45C

c.134C>G