Varaico: Literature-Extracted Genetic Variants

Gene:HAO1
Variant:p.R84R

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
3 papers
NM_017545.3
p.R84R
c.252C>T
Surrounding Variants
1 paper
NM_017545.3
p.M82L
c.244A>T
1 paper
NM_017545.3
p.M82L
c.244A>C
1 paper
NM_017545.3
p.P74S
c.220C>T
1 paper
NM_017545.3
p.R70T
c.209G>C
1 paper
NM_017545.3
p.R55Q
c.164G>A
1 paper
NM_017545.3
p.M53I
c.159G>A
1 paper
NM_017545.3
p.R52_M53insFs
c.156_157insC
1 paper
NM_017545.3
p.R46S
c.138A>T
1 paper
NM_017545.3
p.R46S
c.138A>C
1 paper
NM_017545.3
p.R46Splc
c.137+329T>C
1 paper
NM_017545.3
p.E35delFs
c.103delC
1 paper
NM_017545.3
p.D33_E34insC
c.97_101ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."