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

4 papers

NM_175940.3

p.R925W

c.2773C>T

Surrounding Variants

1 paper

NM_175940.3

p.F922fs

c.2764_2765fs

1 paper

NM_175940.3

p.N928S

c.2783A>G

1 paper

NM_175940.3

p.F922_R925delFs

c.2764_2773del10

1 paper

NM_175940.3

p.R932C

c.2794C>T

1 paper

NM_175940.3

p.W917L

c.2750G>T

1 paper

NM_175940.3

p.V938A

c.2813T>C

1 paper

NM_175940.3

p.G940W

c.2818G>T

1 paper

NM_175940.3

p.E906K

c.2716G>A

1 paper

NM_175940.3

p.R905Q

c.2714G>A

1 paper

NM_175940.3

p.R905W

c.2713C>T

1 paper

NM_175940.3

p.L896P

c.2687T>C

1 paper

NM_175940.3

p.N888S

c.2663A>G