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.K1313E

c.3937A>G

Surrounding Variants

1 paper

NM_000379.4

p.R1296Q

c.3887G>A

9 papers

NM_000379.4

p.R1296W

c.3886C>T

1 paper

NM_000379.4

p.L1294F

c.3880C>T

1 paper

NM_000379.4

p.G1288D

c.3863G>A

2 papers

NM_000379.4

p.Q1285*

c.3853C>T

6 papers

NM_000379.4

p.R1283*

c.3847C>T

1 paper

NM_000379.4

p.R1280C

c.3838C>T

1 paper

NM_000379.4

p.P1263L

c.3788C>T

1 paper

NM_000379.4

p.K1258_A1259Splc

c.3775-108C>T

1 paper

NM_000379.4

p.L1317_C1318Splc

c.3952-103C>G

1 paper

NM_000379.4

p.L1317_C1318Splc

c.3952-76A>G

10 papers

NM_000379.4

p.C1318Y

c.3953G>A