Varaico: Literature-Extracted Genetic Variants

Gene:HAO1
Variant:p.D170N

HAO1

87 papers

RefSeq Summary

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of ...

Pfam Domains

FMN_dhaa 15–362UCSCFMN-dependent dehydrogenase

Gene Aliases

HGNC Name

hydroxyacid oxidase 1

HGNC Previous Symbol

GOX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_017545.3
p.D170N
c.508G>A
Surrounding Variants
1 paper
NM_017545.3
p.V171A
c.512T>C
1 paper
NM_017545.3
p.N173H
c.517A>C
2 papers
NM_017545.3
p.G165D
c.494G>A
1 paper
NM_017545.3
p.G165C
c.493G>T
1 paper
NM_017545.3
p.Y163F
c.488A>T
1 paper
NM_017545.3
p.Y152F
c.455A>T
1 paper
NM_017545.3
p.Y152N
c.454T>A
1 paper
NM_017545.3
p.R145W
c.433C>T
1 paper
NM_017545.3
p.D136_R137insFs
c.406_410dup5
1 paper
NM_017545.3
p.D136_R137ins1
c.408_409insGAG
1 paper
NM_017545.3
p.R127S
c.379C>A
1 paper
NM_017545.3
p.E117fs
c.349_350fs
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