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.T538T

c.1614C>T

Surrounding Variants

1 paper

NM_001363711.2

p.L540L

c.1618C>T

2 papers

NM_001363711.2

p.R541W

c.1621C>T

7 papers

NM_001363711.2

p.R536*

c.1606C>T

1 paper

NM_001363711.2

p.E533K

c.1597G>A

89 papers

NM_001363711.2

p.K530*

c.1588A>T

1 paper

NM_001363711.2

p.G525Splc

c.1575-1G>A

3 papers

NM_001363711.2

p.Q556*

c.1666C>T

1 paper

NM_001363711.2

p.V561D

c.1682T>A

1 paper

NM_001363711.2

p.W562R

c.1684T>C

1 paper

NM_001363711.2

p.W562R

c.1684T>A

1 paper

NM_001363711.2

p.W562C

c.1686G>T

1 paper

NM_001363711.2

p.W562C

c.1686G>C