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

1–12 of 449 variants

6 papers

NM_175940.3

p.R1219Q

c.3656G>A

6 papers

NM_175940.3

p.R1307Q

c.3920G>A

5 papers

NM_175940.3

p.Q650*

c.1948C>T

4 papers

NM_175940.3

p.R925W

c.2773C>T

3 papers

NM_175940.3

p.S58N

c.173G>A

3 papers

NM_175940.3

p.R194G

c.580A>G

3 papers

NM_175940.3

p.R370H

c.1109G>A

3 papers

NM_175940.3

p.R569S

c.1707A>C

3 papers

NM_175940.3

p.R569S

c.1707A>T

3 papers

NM_175940.3

p.F593S

c.1778T>C

3 papers

NM_175940.3

p.R618Q

c.1853G>A

3 papers

NM_175940.3

p.L1160del1

c.3478_3479delCTC