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.P1237P

c.3711C>G

Surrounding Variants

1 paper

NM_000379.4

p.P1237L

c.3710C>T

1 paper

NM_000379.4

p.P1237R

c.3710C>G

5 papers

NM_000379.4

p.E1239E

c.3717G>A

1 paper

NM_000379.4

p.R1246C

c.3736C>T

1 paper

NM_000379.4

p.R1223C

c.3667C>T

3 papers

NM_000379.4

p.T1222I

c.3665C>T

11 papers

NM_000379.4

p.H1221R

c.3662A>G

1 paper

NM_000379.4

p.Y1255F

c.3764A>T

2 papers

NM_000379.4

p.A1253_A1256del4

c.3757_3767del12

1 paper

NM_000379.4

p.S1257S

c.3771G>A

1 paper

NM_000379.4

p.K1258N

c.3774G>T

1 paper

NM_000379.4

p.K1258N

c.3774G>C