Varaico: Literature-Extracted Genetic Variants

DUOX2

531 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 35–560UCSCAnimal haem peroxidase

PH_DUOXaa 640–758UCSCDual oxidase PH domain

EF-hand_1aa 823–851UCSCEF hand domain

EF-hand_8aa 847–886UCSCEF-hand domain pair

Ferric_reductaa 1084–1233UCSCFerric reductase like transmembrane component

FAD_binding_8aa 1269–1371UCSCFAD-binding domain

Gene Aliases

HGNC Name

dual oxidase 2

HGNC Alias Symbols

P138-TOX; P138(TOX); THOX2; LNOX2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001363711.2

p.D793fs

c.2377_2378fs

Surrounding Variants

1 paper

NM_001363711.2

p.D793insFs

c.2378_2379insTC

1 paper

NM_001363711.2

p.L792_D793insCC

c.2374_2378ins6

1 paper

NM_001363711.2

p.P791L

c.2372C>T

2 papers

NM_001363711.2

p.S794fs

c.2380_2381fs

1 paper

NM_001363711.2

p.L790L

c.2368C>T

1 paper

NM_001363711.2

p.V798M

c.2392G>A

2 papers

NM_001363711.2

p.R799W

c.2395C>T

1 paper

NM_001363711.2

p.E800*

c.2398G>T

1 paper

NM_001363711.2

p.L802_T803insFs

c.2406_2407ins4

1 paper

NM_001363711.2

p.T803fs

c.2407_2408fs

1 paper

NM_001363711.2

p.C804W

c.2412C>G

1 paper

NM_001363711.2

p.C804*

c.2412C>A