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

82 papers

NM_001363711.2

p.R1110Q

c.3329G>A

Surrounding Variants

2 papers

NM_001363711.2

p.R1110*

c.3328C>T

1 paper

NM_001363711.2

p.L1109delFs

c.3325delG

3 papers

NM_001363711.2

p.T1107delFs

c.3321delG

4 papers

NM_001363711.2

p.T1107fs

c.3319_3320fs

2 papers

NM_001363711.2

p.T1107I

c.3320C>T

3 papers

NM_001363711.2

p.L1114fs

c.3340_3341fs

8 papers

NM_001363711.2

p.L1114delFs

c.3340delG

1 paper

NM_001363711.2

p.L1114fs

c.3340_3341fs

1 paper

NM_001363711.2

p.L1105F

c.3313C>T

1 paper

NM_001363711.2

p.N1115K

c.3345C>G

1 paper

NM_001363711.2

p.R1116delFs

c.3346delG

1 paper

NM_001363711.2

p.R1103H

c.3308G>A