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

543 papers

NM_000492.4

p.S549R

c.1645A>C

Surrounding Variants

5 papers

NM_000492.4

p.S549C

c.1645A>T

547 papers

NM_000492.4

p.S549N

c.1646G>A

1 paper

NM_000492.4

p.S549T

c.1646G>C

58 papers

NM_000492.4

p.S549I

c.1646G>T

542 papers

NM_000492.4

p.S549R

c.1647T>A

6 papers

NM_000492.4

p.L548Q

c.1643T>A

3 papers

NM_000492.4

p.L548P

c.1643T>C

543 papers

NM_000492.4

p.S549R

c.1647T>G

2 papers

NM_000492.4

p.L548delins

c.1643_1644delinsCT

1 paper

NM_000492.4

p.L548L

c.1642C>T

2 papers

NM_000492.4

p.L548fs

c.1642_1643fs

9 papers

NM_000492.4

p.G550R

c.1648G>A