Varaico: Literature-Extracted Genetic Variants

Gene:HAO2

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
1–12 of 79 variants
5 papers
NM_016527.4
p.W210*
c.630G>A
4 papers
NM_016527.4
p.A11_H12insFs
c.33_34insC
4 papers
NM_016527.4
p.P192P
c.576T>A
3 papers
NM_016527.4
p.V84V
c.252C>T
3 papers
NM_016527.4
p.M196I
c.588G>A
3 papers
NM_016527.4
p.R281*
c.841C>T
2 papers
NM_016527.4
p.R35W
c.103C>T
2 papers
NM_016527.4
p.E89K
c.265G>A
2 papers
NM_016527.4
p.G123S
c.367G>A
2 papers
NM_016527.4
p.R165K
c.494G>A
2 papers
NM_016527.4
p.R249K
c.746G>A
1 paper
NM_016527.4
p.M1K
c.2T>A
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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."