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.C364G

c.1090T>G

Surrounding Variants

1 paper

NM_175940.3

p.C364*

c.1092C>A

1 paper

NM_175940.3

p.C364W

c.1092C>G

1 paper

NM_175940.3

p.W368*

c.1103G>A

1 paper

NM_175940.3

p.W368*

c.1104G>A

2 papers

NM_175940.3

p.R370C

c.1108C>T

3 papers

NM_175940.3

p.R370H

c.1109G>A

1 paper

NM_175940.3

p.E371K

c.1111G>A

1 paper

NM_175940.3

p.S355*

c.1064C>A

1 paper

NM_175940.3

p.S355*

c.1064C>G

1 paper

NM_175940.3

p.F347C

c.1040T>G

1 paper

NM_175940.3

p.C345G

c.1033T>G

1 paper

NM_175940.3

p.E371_H372Splc

c.1114-14C>A