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

11 papers

NM_001363711.2

p.M866R

c.2597T>G

Surrounding Variants

1 paper

NM_001363711.2

p.D870G

c.2609A>G

1 paper

NM_001363711.2

p.D870A

c.2609A>C

1 paper

NM_001363711.2

p.R861C

c.2581C>T

1 paper

NM_001363711.2

p.N872K

c.2616T>G

1 paper

NM_001363711.2

p.N872K

c.2616T>A

1 paper

NM_001363711.2

p.G873delFs

c.2619delG

1 paper

NM_001363711.2

p.D878G

c.2633A>G

1 paper

NM_001363711.2

p.G854Splc

c.2561-1G>T

44 papers

NM_001363711.2

p.E879K

c.2635G>A

11 papers

NM_001363711.2

p.G854Splc

c.2561-2A>C

1 paper

NM_001363711.2

p.M883I

c.2649G>T

1 paper

NM_001363711.2

p.M883I

c.2649G>C