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.F500L

c.1500C>G

Surrounding Variants

1 paper

NM_001363711.2

p.F500L

c.1500C>A

1 paper

NM_001363711.2

p.F500L

c.1498T>C

1 paper

NM_001363711.2

p.L505R

c.1514T>G

1 paper

NM_001363711.2

p.L505P

c.1514T>C

1 paper

NM_001363711.2

p.P496S

c.1486C>T

20 papers

NM_001363711.2

p.D506N

c.1516G>A

1 paper

NM_001363711.2

p.Q507*

c.1519C>T

1 paper

NM_001363711.2

p.H493insFs

c.1479dupT

1 paper

NM_001363711.2

p.G494fs

c.1480_1481fs

1 paper

NM_001363711.2

p.H493delFs

c.1478delT

4 papers

NM_001363711.2

p.F508Y

c.1523T>A

1 paper

NM_001363711.2

p.F508del1

c.1522_1523delAAA