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

5 papers

NM_001363711.2

p.R885Splc

c.2655-2A>C

Surrounding Variants

2 papers

NM_001363711.2

p.R885*

c.2653C>T

36 papers

NM_001363711.2

p.R885L

c.2654G>T

44 papers

NM_001363711.2

p.R885Q

c.2654G>A

1 paper

NM_001363711.2

p.I888I

c.2664C>T

1 paper

NM_001363711.2

p.E889*

c.2665G>T

1 paper

NM_001363711.2

p.N893S

c.2678A>G

1 paper

NM_001363711.2

p.Q899fs

c.2695_2696fs

1 paper

NM_001363711.2

p.Q899delFs

c.2695delG

1 paper

NM_001363711.2

p.V904L

c.2710G>T

1 paper

NM_001363711.2

p.V904L

c.2710G>C

1 paper

NM_001363711.2

p.E905*

c.2713G>T

3 papers

NM_001363711.2

p.S906P

c.2716T>C