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.S176C

c.526A>T

Surrounding Variants

1 paper

NM_175940.3

p.D174A

c.521A>C

1 paper

NM_175940.3

p.W172C

c.516G>C

1 paper

NM_175940.3

p.W172C

c.516G>T

1 paper

NM_175940.3

p.S182L

c.545C>T

1 paper

NM_175940.3

p.W185G

c.553T>G

1 paper

NM_175940.3

p.L189V

c.565C>G

1 paper

NM_175940.3

p.R190W

c.568C>T

1 paper

NM_175940.3

p.F192S

c.575T>C

2 papers

NM_175940.3

p.S193S

c.579C>G

3 papers

NM_175940.3

p.R194G

c.580A>G

1 paper

NM_175940.3

p.S199fs

c.595_596fs

1 paper

NM_175940.3

p.D202Y

c.604G>T