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.Q183E

c.547C>G

Surrounding Variants

1 paper

NM_000379.4

p.N182S

c.545A>G

1 paper

NM_000379.4

p.N182D

c.544A>G

1 paper

NM_000379.4

p.G172_M181del10

c.514_542del30

1 paper

NM_000379.4

p.M181K

c.542T>A

1 paper

NM_000379.4

p.D186N

c.556G>A

1 paper

NM_000379.4

p.C179F

c.536G>T

1 paper

NM_000379.4

p.D186E

c.558C>A

1 paper

NM_000379.4

p.P177T

c.529C>A

1 paper

NM_000379.4

p.N175T

c.524A>C

1 paper

NM_000379.4

p.D173G

c.518A>G

1 paper

NM_000379.4

p.G172V

c.515G>T

12 papers

NM_000379.4

p.G172R

c.514G>C