Varaico: Literature-Extracted Genetic Variants

Gene:HAO1
Variant:p.R182Splc

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
1 paper
NM_017545.3
p.R182Splc
c.546-49C>G
Surrounding Variants
1 paper
NM_017545.3
p.S189N
c.566G>A
1 paper
NM_017545.3
p.S192insFs
c.575_576insT
1 paper
NM_017545.3
p.S192fs
c.574_575fs
3 papers
NM_017545.3
p.E196E
c.588G>A
3 papers
NM_017545.3
p.D214N
c.640G>A
1 paper
NM_017545.3
p.L228L
c.682C>T
1 paper
NM_017545.3
p.S230P
c.688T>C
1 paper
NM_017545.3
p.K236M
c.707A>T
1 paper
NM_017545.3
p.G241Splc
c.721+5G>A
1 paper
NM_017545.3
p.R182Splc
c.545+1171T>C
1 paper
NM_017545.3
p.N173H
c.517A>C
1 paper
NM_017545.3
p.V171A
c.512T>C
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