Varaico: Literature-Extracted Genetic Variants

XDH

424 papers

RefSeq Summary

Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein bas...

Pfam Domains

Fer2aa 8–78UCSC2Fe-2S iron-sulfur cluster binding domain

Fer2_2aa 87–161UCSC[2Fe-2S] binding domain

FAD_binding_5aa 228–412UCSCFAD binding domain in molybdopterin dehydrogenase

CO_deh_flav_Caa 419–523UCSCCO dehydrogenase flavoprotein C-terminal domain

Ald_Xan_dh_Caa 588–694UCSCAldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain

MoCoBD_1aa 699–947UCSCMolybdopterin cofactor-binding domain

Gene Aliases

HGNC Name

xanthine dehydrogenase

HGNC Alias Symbols

XOR; XO; XDH/XO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000379.4

p.R607Q

c.1820G>A

Surrounding Variants

1 paper

NM_000379.4

p.L608R

c.1823T>G

1 paper

NM_000379.4

p.S605F

c.1814C>T

1 paper

NM_000379.4

p.K617N

c.1851G>T

1 paper

NM_000379.4

p.K617N

c.1851G>C

1 paper

NM_000379.4

p.D596N

c.1786G>A

1 paper

NM_000379.4

p.K619Splc

c.1856+7G>A

1 paper

NM_000379.4

p.A591A

c.1773C>T

1 paper

NM_000379.4

p.E590*

c.1768G>T

1 paper

NM_000379.4

p.D584G

c.1751A>G

2 papers

NM_000379.4

p.D584A

c.1751A>C

1 paper

NM_000379.4

p.D584N

c.1750G>A

1 paper

NM_000379.4

p.A583V

c.1748C>T