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

6 papers

NM_000492.4

p.A62P

c.184G>C

Surrounding Variants

2 papers

NM_000492.4

p.A62T

c.184G>A

2 papers

NM_000492.4

p.A62insFs

c.185dupC

4 papers

NM_000492.4

p.A62S

c.184G>T

1 paper

NM_000492.4

p.A62insFs

c.185_186insA

1 paper

NM_000492.4

p.A62V

c.185C>T

2 papers

NM_000492.4

p.L61P

c.182T>C

1 paper

NM_000492.4

p.A62A

c.186T>C

25 papers

NM_000492.4

p.L61delFs

c.182delT

1 paper

NM_000492.4

p.S63A

c.187T>G

1 paper

NM_000492.4

p.S63*

c.188C>A

1 paper

NM_000492.4

p.K64insFs

c.191dupA

1 paper

NM_000492.4

p.S63*

c.188C>G