Varaico: Literature-Extracted Genetic Variants

DUOX1

206 papers

RefSeq Summary

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroi...

Pfam Domains

An_peroxidaseaa 29–557UCSCAnimal haem peroxidase

PH_DUOXaa 639–754UCSCDual oxidase PH domain

EF-hand_1aa 819–847UCSCEF hand domain

EF-hand_7aa 853–925UCSCEF-hand domain pair

Ferric_reductaa 1087–1236UCSCFerric reductase like transmembrane component

FAD_binding_8aa 1272–1374UCSCFAD-binding domain

Gene Aliases

HGNC Name

dual oxidase 1

HGNC Alias Symbols

NOXEF1; THOX1; LNOX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175940.3

p.R50W

c.148C>T

Surrounding Variants

2 papers

NM_175940.3

p.R50Q

c.149G>A

1 paper

NM_175940.3

p.S49C

c.146C>G

2 papers

NM_175940.3

p.G48Splc

c.143-3C>G

3 papers

NM_175940.3

p.S58N

c.173G>A

1 paper

NM_175940.3

p.P66S

c.196C>T

1 paper

NM_175940.3

p.G68G

c.204A>T

1 paper

NM_175940.3

p.H71Y

c.211C>T

1 paper

NM_175940.3

p.R76*

c.226C>T

1 paper

NM_175940.3

p.R76Q

c.227G>A

2 papers

NM_175940.3

p.T81I

c.242C>T

1 paper

NM_175940.3

p.R95S

c.283C>A

1 paper

NM_175940.3

p.R95L

c.284G>T