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

3 papers

NM_000379.4

p.R161W

c.481C>T

Surrounding Variants

1 paper

NM_000379.4

p.R161Q

c.482G>A

1 paper

NM_000379.4

p.F160Y

c.479T>A

1 paper

NM_000379.4

p.G159C

c.475G>T

2 papers

NM_000379.4

p.Q158*

c.472C>T

1 paper

NM_000379.4

p.R165K

c.494G>A

1 paper

NM_000379.4

p.Y153H

c.457T>C

1 paper

NM_000379.4

p.G152S

c.454G>A

1 paper

NM_000379.4

p.T151T

c.453A>T

2 papers

NM_000379.4

p.C150F

c.449G>T

1 paper

NM_000379.4

p.C150S

c.449G>C

1 paper

NM_000379.4

p.C150S

c.448T>A

1 paper

NM_000379.4

p.R149fs

c.445_446fs