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

1–12 of 591 variants

18 papers

NM_000379.4

p.I703V

c.2107A>G

15 papers

NM_000379.4

p.R149C

c.445C>T

14 papers

NM_000379.4

p.I646V

c.1936A>G

12 papers

NM_000379.4

p.G172R

c.514G>C

12 papers

NM_000379.4

p.G172R

c.514G>A

12 papers

NM_000379.4

p.R607Q

c.1820G>A

11 papers

NM_000379.4

p.H1221R

c.3662A>G

10 papers

NM_000379.4

p.P555S

c.1663C>T

10 papers

NM_000379.4

p.T910K

c.2729C>A

10 papers

NM_000379.4

p.C1318Y

c.3953G>A

9 papers

NM_000379.4

p.T623I

c.1868C>T

9 papers

NM_000379.4

p.N1109T

c.3326A>C