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

1 paper

NM_000379.4

p.N1087S

c.3260A>G

Surrounding Variants

1 paper

NM_000379.4

p.G1088A

c.3263G>C

1 paper

NM_000379.4

p.G1088E

c.3263G>A

2 papers

NM_000379.4

p.L1086F

c.3256C>T

2 papers

NM_000379.4

p.V1091L

c.3271G>C

1 paper

NM_000379.4

p.V1091A

c.3272T>C

1 paper

NM_000379.4

p.A1080V

c.3239C>T

1 paper

NM_000379.4

p.A1079T

c.3235G>A

2 papers

NM_000379.4

p.T1078M

c.3233C>T

5 papers

NM_000379.4

p.Y1092_A1093Splc

c.3276+12A>G

1 paper

NM_000379.4

p.T1071I

c.3212C>T

1 paper

NM_000379.4

p.N1070K

c.3210C>G

1 paper

NM_000379.4

p.N1070K

c.3210C>A