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.P907L

c.2720C>T

Surrounding Variants

1 paper

NM_000379.4

p.L906H

c.2717T>A

8 papers

NM_000379.4

p.N909K

c.2727C>G

8 papers

NM_000379.4

p.N909K

c.2727C>A

8 papers

NM_000379.4

p.T910M

c.2729C>T

10 papers

NM_000379.4

p.T910K

c.2729C>A

4 papers

NM_000379.4

p.R913W

c.2737C>T

1 paper

NM_000379.4

p.R913L

c.2738G>T

3 papers

NM_000379.4

p.R913Q

c.2738G>A

1 paper

NM_000379.4

p.G914S

c.2740G>A

1 paper

NM_000379.4

p.G914fs

c.2740_2741fs

1 paper

NM_000379.4

p.G914A

c.2741G>C

1 paper

NM_000379.4

p.G914delFs

c.2741delC