Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.A11delFs

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.A11delFs
c.33delC
Surrounding Variants
4 papers
NM_016527.4
p.A11_H12insFs
c.33_34insC
1 paper
NM_016527.4
p.M1K
c.2T>A
1 paper
NM_016527.4
p.M1T
c.2T>C
1 paper
NM_016527.4
p.E26K
c.76G>A
1 paper
NM_016527.4
p.G27S
c.79G>A
1 paper
NM_016527.4
p.D30V
c.89A>T
1 paper
NM_016527.4
p.I33_T34insC
c.97_101ins3
1 paper
NM_016527.4
p.T34M
c.101C>T
2 papers
NM_016527.4
p.R35W
c.103C>T
1 paper
NM_016527.4
p.A41T
c.121G>A
1 paper
NM_016527.4
p.K43E
c.127A>G
1 paper
NM_016527.4
p.Y51F
c.152A>T
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