Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.V318D

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.V318D
c.953T>A
Surrounding Variants
1 paper
NM_016527.4
p.G314D
c.941G>A
1 paper
NM_016527.4
p.N324delFs
c.972delT
1 paper
NM_016527.4
p.E325Q
c.973G>C
1 paper
NM_016527.4
p.K310_G311Splc
c.931-8G>A
1 paper
NM_016527.4
p.G306delFs
c.917delG
1 paper
NM_016527.4
p.A291D
c.872C>A
1 paper
NM_016527.4
p.K288R
c.863A>G
1 paper
NM_016527.4
p.T282I
c.845C>T
1 paper
NM_016527.4
p.R281Q
c.842G>A
3 papers
NM_016527.4
p.R281*
c.841C>T
1 paper
NM_016527.4
p.V274I
c.820G>A
1 paper
NM_016527.4
p.E263K
c.787G>A
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