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

3 papers

NM_175940.3

p.R618Q

c.1853G>A

Surrounding Variants

1 paper

NM_175940.3

p.I615L

c.1843A>C

2 papers

NM_175940.3

p.Q628delFs

c.1883delA

2 papers

NM_175940.3

p.V608Splc

c.1823-1G>C

1 paper

NM_175940.3

p.I635V

c.1903A>G

1 paper

NM_175940.3

p.V636M

c.1906G>A

1 paper

NM_175940.3

p.S637F

c.1910C>T

1 paper

NM_175940.3

p.V641delFs

c.1921delG

1 paper

NM_175940.3

p.V641M

c.1921G>A

1 paper

NM_175940.3

p.M644T

c.1931T>C

1 paper

NM_175940.3

p.A646Splc

c.1937-1G>C

1 paper

NM_175940.3

p.E648K

c.1942G>A

5 papers

NM_175940.3

p.Q650*

c.1948C>T