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.R1135Splc

c.3405-30A>C

Surrounding Variants

2 papers

NM_000379.4

p.R1135Splc

c.3405-15T>C

1 paper

NM_000379.4

p.E1144D

c.3432G>T

1 paper

NM_000379.4

p.E1144Fs

c.3432delinsCAGTCGCTFs

1 paper

NM_000379.4

p.E1144D

c.3432G>C

1 paper

NM_000379.4

p.S1147*

c.3440C>G

7 papers

NM_000379.4

p.P1150R

c.3449C>G

1 paper

NM_000379.4

p.K1173_N1174Splc

c.3520-45A>G

2 papers

NM_000379.4

p.R1176C

c.3526C>T

2 papers

NM_000379.4

p.R1176H

c.3527G>A

7 papers

NM_000379.4

p.I1179T

c.3536T>C

1 paper

NM_000379.4

p.M1181I

c.3543G>T

1 paper

NM_000379.4

p.M1181I

c.3543G>C