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

7 papers

NM_000492.4

p.Q270*

c.808C>T

Surrounding Variants

1 paper

NM_000492.4

p.I269M

c.807C>G

1 paper

NM_000492.4

p.Q270del1

c.808_810delCAA

2 papers

NM_000492.4

p.Q270Q

c.810A>G

2 papers

NM_000492.4

p.S271delFs

c.811delT

1 paper

NM_000492.4

p.I269N

c.806T>A

5 papers

NM_000492.4

p.I269T

c.806T>C

1 paper

NM_000492.4

p.I269fs

c.805_806fs

1 paper

NM_000492.4

p.I269delFs

c.806delT

3 papers

NM_000492.4

p.S271P

c.811T>C

1 paper

NM_000492.4

p.S271Y

c.812C>A

3 papers

NM_000492.4

p.N268fs

c.802_803fs

2 papers

NM_000492.4

p.I269delFs

c.805_806delAT