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

3 papers

NM_175940.3

p.L1160del1

c.3478_3479delCTC

Surrounding Variants

1 paper

NM_175940.3

p.P1159A

c.3475C>G

1 paper

NM_175940.3

p.V1162_C1165del4

c.3484_3494del12

1 paper

NM_175940.3

p.V1162I

c.3484G>A

1 paper

NM_175940.3

p.V1162_C1165del0

c.3486_3494del9

1 paper

NM_175940.3

p.C1165G

c.3493T>G

1 paper

NM_175940.3

p.Y1153H

c.3457T>C

1 paper

NM_175940.3

p.F1171L

c.3511T>C

1 paper

NM_175940.3

p.F1171L

c.3513C>A

1 paper

NM_175940.3

p.F1171L

c.3513C>G

1 paper

NM_175940.3

p.S1145R

c.3435T>A

1 paper

NM_175940.3

p.S1145R

c.3435T>G

1 paper

NM_175940.3

p.S1145R

c.3433A>C