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.L690V

c.2068C>G

Surrounding Variants

1 paper

NM_001363711.2

p.Q691*

c.2071C>T

2 papers

NM_001363711.2

p.Q692*

c.2074C>T

23 papers

NM_001363711.2

p.Q686*

c.2056C>T

37 papers

NM_001363711.2

p.R683L

c.2048G>T

1 paper

NM_001363711.2

p.R683H

c.2048G>A

1 paper

NM_001363711.2

p.I696I

c.2088C>T

1 paper

NM_001363711.2

p.L697L

c.2089C>T

1 paper

NM_001363711.2

p.R683C

c.2047C>T

1 paper

NM_001363711.2

p.N700D

c.2098A>G

25 papers

NM_001363711.2

p.R701*

c.2101C>T

8 papers

NM_001363711.2

p.R701Q

c.2102G>A

37 papers

NM_001363711.2

p.H678R

c.2033A>G