Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.P86A

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.P86A
c.256C>G
Surrounding Variants
3 papers
NM_016527.4
p.V84V
c.252C>T
2 papers
NM_016527.4
p.E89K
c.265G>A
1 paper
NM_016527.4
p.F80Y
c.239T>A
1 paper
NM_016527.4
p.F80I
c.238T>A
1 paper
NM_016527.4
p.G79A
c.236G>C
1 paper
NM_016527.4
p.A95T
c.283G>A
1 paper
NM_016527.4
p.A76T
c.226G>A
1 paper
NM_016527.4
p.C74F
c.221G>T
1 paper
NM_016527.4
p.S70T
c.209G>C
1 paper
NM_016527.4
p.I69S
c.206T>G
1 paper
NM_016527.4
p.R53K
c.158G>A
1 paper
NM_016527.4
p.L52_R53insFs
c.156_157insC
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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."