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

1 paper

NM_000492.4

p.K564N

c.1692A>T

Surrounding Variants

1 paper

NM_000492.4

p.K564K

c.1692A>G

6 papers

NM_000492.4

p.K564R

c.1691A>G

1 paper

NM_000492.4

p.K564I

c.1691A>T

1 paper

NM_000492.4

p.D565N

c.1693G>A

2 papers

NM_000492.4

p.D565H

c.1693G>C

4 papers

NM_000492.4

p.D565Y

c.1693G>T

1 paper

NM_000492.4

p.D565fs

c.1693_1694fs

7 papers

NM_000492.4

p.D565A

c.1694A>C

43 papers

NM_000492.4

p.D565G

c.1694A>G

6 papers

NM_000492.4

p.K564E

c.1690A>G

1 paper

NM_000492.4

p.D565V

c.1694A>T

7 papers

NM_000492.4

p.Y563*

c.1689C>A