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

11 papers

NM_000492.4

p.Q552P

c.1655A>C

Surrounding Variants

3 papers

NM_000492.4

p.Q552H

c.1656A>C

3 papers

NM_000492.4

p.Q552H

c.1656A>T

6 papers

NM_000492.4

p.Q552K

c.1654C>A

1 paper

NM_000492.4

p.Q552fs

c.1654_1655fs

112 papers

NM_000492.4

p.Q552*

c.1654C>T

3 papers

NM_000492.4

p.Q552delFs

c.1656delA

25 papers

NM_000492.4

p.R553G

c.1657C>G

1197 papers

NM_000492.4

p.R553*

c.1657C>T

2877 papers

NM_000492.4

p.G551D

c.1652G>A

114 papers

NM_000492.4

p.R553Q

c.1658G>A

8 papers

NM_000492.4

p.G551A

c.1652G>C

1 paper

NM_000492.4

p.R553P

c.1658G>C