Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.I219fs

HAO2

89 papers

RefSeq Summary

This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alte...

Pfam Domains

FMN_dhaa 13–348UCSCFMN-dependent dehydrogenase

Gene Aliases

HGNC Name

hydroxyacid oxidase 2

HGNC Alias Symbols

HAOX2; GIG16

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016527.4
p.I219fs
c.655_656fs
Surrounding Variants
1 paper
NM_016527.4
p.P218delFs
c.652delC
1 paper
NM_016527.4
p.L217delFs
c.651delG
1 paper
NM_016527.4
p.L217fs
c.649_650fs
5 papers
NM_016527.4
p.W210*
c.630G>A
1 paper
NM_016527.4
p.P198L
c.593C>T
3 papers
NM_016527.4
p.M196I
c.588G>A
4 papers
NM_016527.4
p.P192P
c.576T>A
2 papers
NM_016527.4
p.R249K
c.746G>A
1 paper
NM_016527.4
p.S257A
c.769T>G
1 paper
NM_016527.4
p.S257_I258Splc
c.771+5G>A
1 paper
NM_016527.4
p.P185L
c.554C>T
1 paper
NM_016527.4
p.D181N
c.541G>A
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