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.R1216C

c.3646C>T

Surrounding Variants

2 papers

NM_175940.3

p.R1215H

c.3644G>A

1 paper

NM_175940.3

p.R1215C

c.3643C>T

1 paper

NM_175940.3

p.R1214H

c.3641G>A

1 paper

NM_175940.3

p.R1214C

c.3640C>T

2 papers

NM_175940.3

p.R1219W

c.3655C>T

6 papers

NM_175940.3

p.R1219Q

c.3656G>A

1 paper

NM_175940.3

p.F1221_W1222delFs

c.3661_3664del4

1 paper

NM_175940.3

p.F1221fs

c.3661_3662fs

1 paper

NM_175940.3

p.W1222fs

c.3664_3665fs

1 paper

NM_175940.3

p.W1222*

c.3665G>A

1 paper

NM_175940.3

p.W1222_L1223delFs

c.3666_3667delGC

1 paper

NM_175940.3

p.W1222*

c.3666G>A