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

43 papers

NM_001363711.2

p.L1343F

c.4027C>T

Surrounding Variants

1 paper

NM_001363711.2

p.T1328_T1340delFs

c.3982_4019del38

1 paper

NM_001363711.2

p.W1339*

c.4017G>A

1 paper

NM_001363711.2

p.W1339*

c.4016G>A

6 papers

NM_001363711.2

p.Y1347C

c.4040A>G

1 paper

NM_001363711.2

p.G1337V

c.4010G>T

1 paper

NM_001363711.2

p.A1335_V1336del2

c.4003_4007del6

1 paper

NM_001363711.2

p.G1337R

c.4009G>C

1 paper

NM_001363711.2

p.G1337R

c.4009G>A

1 paper

NM_001363711.2

p.S1349C

c.4046C>G

15 papers

NM_001363711.2

p.R1334W

c.4000C>T

1 paper

NM_001363711.2

p.H1332Y

c.3994C>T

1 paper

NM_001363711.2

p.Y1358*

c.4074C>G