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.D380H

c.1138G>C

Surrounding Variants

1 paper

NM_175940.3

p.Q376*

c.1126C>T

1 paper

NM_175940.3

p.L386Q

c.1157T>A

1 paper

NM_175940.3

p.P373T

c.1117C>A

1 paper

NM_175940.3

p.M388_A389delFs

c.1162_1165del4

2 papers

NM_175940.3

p.E371_H372Splc

c.1114-1G>A

1 paper

NM_175940.3

p.E371_H372Splc

c.1114-14C>A

2 papers

NM_175940.3

p.R395*

c.1183C>T

2 papers

NM_175940.3

p.R395Q

c.1184G>A

1 paper

NM_175940.3

p.D397N

c.1189G>A

1 paper

NM_175940.3

p.D397A

c.1190A>C

2 papers

NM_175940.3

p.E402D

c.1206A>T

1 paper

NM_175940.3

p.D403G

c.1208A>G