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.W1117_V1118Splc

c.3352-30A>C

Surrounding Variants

1 paper

NM_000379.4

p.T1131I

c.3392C>T

1 paper

NM_000379.4

p.W1117_V1118Splc

c.3351+909A>G

1 paper

NM_000379.4

p.W1117_V1118Splc

c.3351+164T>C

9 papers

NM_000379.4

p.N1109T

c.3326A>C

1 paper

NM_000379.4

p.E1103D

c.3309A>T

1 paper

NM_000379.4

p.E1103D

c.3309A>C

1 paper

NM_000379.4

p.A1094G

c.3281C>G

1 paper

NM_000379.4

p.A1093S

c.3277G>T

1 paper

NM_000379.4

p.Y1092_A1093Splc

c.3277-44G>T

1 paper

NM_000379.4

p.Y1092_A1093Splc

c.3277-214C>T

1 paper

NM_000379.4

p.R1135Splc

c.3405-30A>C

2 papers

NM_000379.4

p.R1135Splc

c.3405-15T>C