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.P219L

c.656C>T

Surrounding Variants

1 paper

NM_175940.3

p.P219R

c.656C>G

1 paper

NM_175940.3

p.A218E

c.653C>A

1 paper

NM_175940.3

p.P221S

c.661C>T

1 paper

NM_175940.3

p.M215T

c.644T>C

1 paper

NM_175940.3

p.M215R

c.644T>G

1 paper

NM_175940.3

p.G224E

c.671G>A

1 paper

NM_175940.3

p.Q225K

c.673C>A

1 paper

NM_175940.3

p.L213P

c.638T>C

1 paper

NM_175940.3

p.L213M

c.637C>A

1 paper

NM_175940.3

p.R229W

c.685C>T

1 paper

NM_175940.3

p.R207fs

c.619_620fs

1 paper

NM_175940.3

p.R207delFs

c.619delC