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.C671G

c.2011T>G

Surrounding Variants

3 papers

NM_001363711.2

p.Q673insFs

c.2018dupA

1 paper

NM_001363711.2

p.V674L

c.2020G>C

2 papers

NM_001363711.2

p.V674fs

c.2020_2021fs

4 papers

NM_001363711.2

p.V674G

c.2021T>G

1 paper

NM_001363711.2

p.V674A

c.2021T>C

3 papers

NM_001363711.2

p.L667fs

c.1999_2000fs

3 papers

NM_001363711.2

p.L667delFs

c.2000delA

1 paper

NM_001363711.2

p.L667fs

c.1999_2000fs

1 paper

NM_001363711.2

p.R677W

c.2029A>T

37 papers

NM_001363711.2

p.H678R

c.2033A>G

1 paper

NM_001363711.2

p.I663V

c.1987A>G

1 paper

NM_001363711.2

p.R683C

c.2047C>T