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.P1317H

c.3950C>A

Surrounding Variants

1 paper

NM_001363711.2

p.T1319I

c.3956C>T

1 paper

NM_001363711.2

p.S1322F

c.3965C>T

1 paper

NM_001363711.2

p.S1322Y

c.3965C>A

8 papers

NM_001363711.2

p.A1323T

c.3967G>A

3 papers

NM_001363711.2

p.P1324S

c.3970C>T

1 paper

NM_001363711.2

p.P1324P

c.3972C>G

1 paper

NM_001363711.2

p.A1306T

c.3916G>A

1 paper

NM_001363711.2

p.R1304W

c.3910C>T

1 paper

NM_001363711.2

p.W1302C

c.3906G>T

1 paper

NM_001363711.2

p.W1302C

c.3906G>C

1 paper

NM_001363711.2

p.H1332Y

c.3994C>T

2 papers

NM_001363711.2

p.W1302R

c.3904T>C