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.L475fs

c.1423_1424fs

Surrounding Variants

2 papers

NM_000492.4

p.L475V

c.1423C>G

2 papers

NM_000492.4

p.L475delFs

c.1424delT

2 papers

NM_000492.4

p.L475delFs

c.1423delC

1 paper

NM_000492.4

p.L475P

c.1424T>C

18 papers

NM_000492.4

p.E474K

c.1420G>A

1 paper

NM_000492.4

p.E476K

c.1426G>A

3 papers

NM_000492.4

p.E474Q

c.1420G>C

1 paper

NM_000492.4

p.E474*

c.1420G>T

1 paper

NM_000492.4

p.P477_S478ins0

c.1431_1433dupTTC

4 papers

NM_000492.4

p.P477A

c.1429C>G

7 papers

NM_000492.4

p.P477S

c.1429C>T

2 papers

NM_000492.4

p.G473R

c.1417G>A