Varaico: Literature-Extracted Genetic Variants

Gene:HAO1
Variant:p.V313L

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
2 papers
NM_017545.3
p.V313L
c.937G>C
Surrounding Variants
2 papers
NM_017545.3
p.V313L
c.937G>T
1 paper
NM_017545.3
p.F312insFs
c.936dupT
1 paper
NM_017545.3
p.V313fs
c.937_938fs
1 paper
NM_017545.3
p.G314G
c.942G>A
1 paper
NM_017545.3
p.V318F
c.952G>T
1 paper
NM_017545.3
p.A308T
c.922G>A
1 paper
NM_017545.3
p.V274I
c.820G>A
1 paper
NM_017545.3
p.T271_I272Splc
c.814-1G>C
1 paper
NM_017545.3
p.V329A
c.986T>C
1 paper
NM_017545.3
p.L333I
c.997C>A
1 paper
NM_017545.3
p.L333fs
c.997_998fs
1 paper
NM_017545.3
p.L333delFs
c.997delG
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