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

9 papers

NM_000379.4

p.T623I

c.1868C>T

Surrounding Variants

2 papers

NM_000379.4

p.S624*

c.1871C>G

1 paper

NM_000379.4

p.S624*

c.1871C>A

1 paper

NM_000379.4

p.K627K

c.1881G>A

1 paper

NM_000379.4

p.V629F

c.1885G>T

1 paper

NM_000379.4

p.V629L

c.1885G>C

1 paper

NM_000379.4

p.V629I

c.1885G>A

1 paper

NM_000379.4

p.F632L

c.1894T>C

1 paper

NM_000379.4

p.F632L

c.1896T>G

1 paper

NM_000379.4

p.F632L

c.1896T>A

14 papers

NM_000379.4

p.I646V

c.1936A>G

1 paper

NM_000379.4

p.I646_T647insGC

c.1936_1940ins6

1 paper

NM_000379.4

p.D652H

c.1954G>C