Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.G123S

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
2 papers
NM_016527.4
p.G123S
c.367G>A
Surrounding Variants
1 paper
NM_016527.4
p.R125Q
c.374G>A
1 paper
NM_016527.4
p.W126*
c.377G>A
1 paper
NM_016527.4
p.W126*
c.378G>A
1 paper
NM_016527.4
p.V117F
c.349G>T
1 paper
NM_016527.4
p.H132L
c.395A>T
1 paper
NM_016527.4
p.Q136_L137ins1
c.408_409insGAG
1 paper
NM_001005783.3
p.L150P
c.449T>C
1 paper
NM_016527.4
p.T107R
c.320C>G
1 paper
NM_016527.4
p.A98V
c.293C>T
1 paper
NM_016527.4
p.Q97*
c.289C>T
1 paper
NM_016527.4
p.A96V
c.287C>T
1 paper
NM_016527.4
p.P160L
c.479C>T
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