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.G149V

c.446G>T

Surrounding Variants

2 papers

NM_000492.4

p.G149E

c.446G>A

1 paper

NM_000492.4

p.G149A

c.446G>C

33 papers

NM_000492.4

p.G149R

c.445G>A

33 papers

NM_000492.4

p.G149R

c.445G>C

8 papers

NM_000492.4

p.G149*

c.445G>T

1 paper

NM_000492.4

p.G149_M150delFs

c.446_449del4

8 papers

NM_000492.4

p.M150V

c.448A>G

1 paper

NM_000492.4

p.M150fs

c.448_449fs

9 papers

NM_000492.4

p.I148N

c.443T>A

5 papers

NM_000492.4

p.M150K

c.449T>A

293 papers

NM_000492.4

p.I148T

c.443T>C

1 paper

NM_000492.4

p.M150T

c.449T>C