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.K710N

c.2130A>T

Surrounding Variants

2 papers

NM_000492.4

p.K710N

c.2130A>C

1 paper

NM_000492.4

p.S712delFs

c.2134delT

3 papers

NM_000492.4

p.K710R

c.2129A>G

2 papers

NM_000492.4

p.F711L

c.2131T>C

1 paper

NM_000492.4

p.K710E

c.2128A>G

99 papers

NM_000492.4

p.K710*

c.2128A>T

1 paper

NM_000492.4

p.F711C

c.2132T>G

2 papers

NM_000492.4

p.F711L

c.2133T>A

2 papers

NM_000492.4

p.F711L

c.2133T>G

8 papers

NM_000492.4

p.R709Q

c.2126G>A

1 paper

NM_000492.4

p.S712P

c.2134T>C

10 papers

NM_000492.4

p.S712A

c.2134T>G