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

1–12 of 971 variants

89 papers

NM_001363711.2

p.K530*

c.1588A>T

82 papers

NM_001363711.2

p.R1110Q

c.3329G>A

44 papers

NM_001363711.2

p.E879K

c.2635G>A

44 papers

NM_001363711.2

p.R885Q

c.2654G>A

43 papers

NM_001363711.2

p.L1343F

c.4027C>T

40 papers

NM_001363711.2

p.R885L

c.2654G>T

39 papers

NM_001363711.2

p.R376W

c.1126C>T

38 papers

NM_001363711.2

p.G488R

c.1462G>A

37 papers

NM_001363711.2

p.H678R

c.2033A>G

37 papers

NM_001363711.2

p.R683L

c.2048G>T

36 papers

NM_001363711.2

p.G488R

c.1462G>C

36 papers

NM_001363711.2

p.R885L

c.2654G>T