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

3 papers

NM_001363711.2

p.A366V

c.1097C>T

Surrounding Variants

1 paper

NM_001363711.2

p.Q365R

c.1094A>G

4 papers

NM_001363711.2

p.S363G

c.1087A>G

3 papers

NM_001363711.2

p.C370G

c.1108T>G

1 paper

NM_001363711.2

p.F361S

c.1082T>C

1 paper

NM_001363711.2

p.G360R

c.1078G>C

1 paper

NM_001363711.2

p.G360S

c.1078G>A

7 papers

NM_001363711.2

p.I375F

c.1123A>T

39 papers

NM_001363711.2

p.R376W

c.1126C>T

2 papers

NM_001363711.2

p.R376L

c.1127G>T

2 papers

NM_001363711.2

p.R376Q

c.1127G>A

11 papers

NM_001363711.2

p.R354W

c.1060C>T

3 papers

NM_001363711.2

p.F353delFs

c.1057_1058delAA