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

6 papers

NM_001363711.2

p.S1095_Y1096delFs

c.3285_3286delAA

Surrounding Variants

1 paper

NM_001363711.2

p.Y1096fs

c.3286_3287fs

3 papers

NM_001363711.2

p.I1097fs

c.3289_3290fs

1 paper

NM_001363711.2

p.L1098F

c.3294G>T

1 paper

NM_001363711.2

p.L1098F

c.3294G>C

1 paper

NM_001363711.2

p.M1093T

c.3278T>C

1 paper

NM_001363711.2

p.L1099H

c.3296T>A

1 paper

NM_001363711.2

p.M1093V

c.3277A>G

1 paper

NM_001363711.2

p.A1088_S1089delFs

c.3264_3267del4

1 paper

NM_001363711.2

p.R1103H

c.3308G>A

1 paper

NM_001363711.2

p.L1105F

c.3313C>T

1 paper

NM_001363711.2

p.A1087V

c.3260C>T

1 paper

NM_001363711.2

p.T1086M

c.3257C>T