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.L571delFs

c.1712delT

Surrounding Variants

2 papers

NM_175940.3

p.Q570L

c.1709A>T

1 paper

NM_175940.3

p.Q570*

c.1708C>T

3 papers

NM_175940.3

p.R569S

c.1707A>C

3 papers

NM_175940.3

p.R569S

c.1707A>T

1 paper

NM_175940.3

p.E574fs

c.1720_1721fs

1 paper

NM_175940.3

p.E574delFs

c.1722delA

1 paper

NM_175940.3

p.P566L

c.1697C>T

1 paper

NM_175940.3

p.C565G

c.1693T>G

2 papers

NM_175940.3

p.C579G

c.1735T>G

1 paper

NM_175940.3

p.A580G

c.1739C>G

1 paper

NM_175940.3

p.R585P

c.1754G>C

1 paper

NM_175940.3

p.F588Y

c.1763T>A