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.D553fs

c.1657_1658fs

Surrounding Variants

5 papers

NM_000379.4

p.D553insFs

c.1658_1659insC

10 papers

NM_000379.4

p.P555S

c.1663C>T

1 paper

NM_000379.4

p.P555T

c.1663C>A

2 papers

NM_000379.4

p.P555insFs

c.1664dupC

1 paper

NM_000379.4

p.A556S

c.1666G>T

3 papers

NM_000379.4

p.A556fs

c.1666_1667fs

1 paper

NM_000379.4

p.A556fs

c.1666_1667fs

3 papers

NM_000379.4

p.D557N

c.1669G>A

1 paper

NM_000379.4

p.L560P

c.1679T>C

6 papers

NM_000379.4

p.Q562_E563Splc

c.1686+1G>C

1 paper

NM_000379.4

p.T542A

c.1624A>G

1 paper

NM_000379.4

p.Q562_E563Splc

c.1686+8C>T