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

10 papers

NM_000492.4

p.L145_H146insFs

c.435_436insA

Surrounding Variants

1 paper

NM_000492.4

p.L145_H146insFs

c.435_436insC

2 papers

NM_000492.4

p.H146Y

c.436C>T

3 papers

NM_000492.4

p.L145H

c.434T>A

2 papers

NM_000492.4

p.L145R

c.434T>G

1 paper

NM_000492.4

p.H146del1

c.436_438delCAT

5 papers

NM_000492.4

p.H146R

c.437A>G

2 papers

NM_000492.4

p.L145V

c.433C>G

1 paper

NM_000492.4

p.L145F

c.433C>T

1 paper

NM_000492.4

p.G144G

c.432C>T

18 papers

NM_000492.4

p.H146Q

c.438T>A

2 papers

NM_000492.4

p.H147_M150del4

c.439_449del12

1 paper

NM_000492.4

p.H147Y

c.439C>T