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.Y838N

c.2512T>A

Surrounding Variants

1 paper

NM_001363711.2

p.G837D

c.2510G>A

1 paper

NM_001363711.2

p.S840Y

c.2519C>A

1 paper

NM_001363711.2

p.D834N

c.2500G>A

22 papers

NM_001363711.2

p.R842*

c.2524C>T

1 paper

NM_001363711.2

p.S826F

c.2477C>T

1 paper

NM_001363711.2

p.M822V

c.2464A>G

1 paper

NM_001363711.2

p.G854Splc

c.2560+1G>A

1 paper

NM_001363711.2

p.G854Splc

c.2560+2T>G

1 paper

NM_001363711.2

p.G854Splc

c.2560+2T>C

1 paper

NM_001363711.2

p.G854Splc

c.2560+4G>A

2 papers

NM_001363711.2

p.L815P

c.2444T>C

1 paper

NM_001363711.2

p.A812A

c.2436C>T