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.R679C

c.2035C>T

Surrounding Variants

2 papers

NM_175940.3

p.R679H

c.2036G>A

1 paper

NM_175940.3

p.L683R

c.2048T>G

1 paper

NM_175940.3

p.P686S

c.2056C>T

1 paper

NM_175940.3

p.V670G

c.2009T>G

1 paper

NM_175940.3

p.K688E

c.2062A>G

2 papers

NM_175940.3

p.R669H

c.2006G>A

1 paper

NM_175940.3

p.V689A

c.2066T>C

1 paper

NM_175940.3

p.V689G

c.2066T>G

1 paper

NM_175940.3

p.N690D

c.2068A>G

1 paper

NM_175940.3

p.N690S

c.2069A>G

1 paper

NM_175940.3

p.G666R

c.1996G>A

1 paper

NM_175940.3

p.G666R

c.1996G>C