Varaico: Literature-Extracted Genetic Variants

Gene:HAO2
Variant:p.P185L

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.P185L
c.554C>T
Surrounding Variants
1 paper
NM_016527.4
p.D181N
c.541G>A
1 paper
NM_016527.4
p.R175Fs
c.525delinsTGFs
2 papers
NM_016527.4
p.R165K
c.494G>A
1 paper
NM_016527.4
p.R165M
c.494G>T
1 paper
NM_016527.4
p.R165G
c.493A>G
1 paper
NM_016527.4
p.C162Fs
c.486delinsTGFs
1 paper
NM_016527.4
p.P160L
c.479C>T
1 paper
NM_001005783.3
p.L150P
c.449T>C
1 paper
NM_016527.4
p.Q136_L137ins1
c.408_409insGAG
1 paper
NM_016527.4
p.H132L
c.395A>T
1 paper
NM_016527.4
p.W126*
c.378G>A
1 paper
NM_016527.4
p.W126*
c.377G>A
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