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

6 papers

NM_175940.3

p.R1307Q

c.3920G>A

Surrounding Variants

1 paper

NM_175940.3

p.I1308F

c.3922A>T

1 paper

NM_175940.3

p.A1309T

c.3925G>A

1 paper

NM_175940.3

p.G1314R

c.3940G>A

1 paper

NM_175940.3

p.G1314R

c.3940G>C

1 paper

NM_175940.3

p.Y1300D

c.3898T>G

1 paper

NM_175940.3

p.G1297S

c.3889G>A

1 paper

NM_175940.3

p.Y1318Y

c.3954C>T

1 paper

NM_175940.3

p.R1294Q

c.3881G>A

1 paper

NM_175940.3

p.R1291Q

c.3872G>A

1 paper

NM_175940.3

p.A1326V

c.3977C>T

1 paper

NM_175940.3

p.T1344S

c.4030A>T

1 paper

NM_175940.3

p.T1344S

c.4031C>G