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.E713G

c.2138A>G

Surrounding Variants

2 papers

NM_001363711.2

p.E713D

c.2139G>T

2 papers

NM_001363711.2

p.E713D

c.2139G>C

1 paper

NM_001363711.2

p.P711delins

c.2132_2133delinsGG

1 paper

NM_001363711.2

p.P711L

c.2132C>T

2 papers

NM_001363711.2

p.D715D

c.2145C>T

1 paper

NM_001363711.2

p.P711S

c.2131C>T

1 paper

NM_001363711.2

p.L716delFs

c.2146delG

2 papers

NM_001363711.2

p.L716fs

c.2146_2147fs

1 paper

NM_001363711.2

p.L716_V717Splc

c.2148+1G>T

1 paper

NM_001363711.2

p.C703*

c.2109C>A

11 papers

NM_001363711.2

p.G702del1

c.2104_2106delTCC

1 paper

NM_001363711.2

p.G702fs

c.2104_2105fs